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Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.

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Title: Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
Authors: Zeuzem N; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany., Quilan M; Univ Rouen Normandie, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Dominguez-Valentin M; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway., Baert-Desurmont S; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics, F-76000, Rouen, France., Horlacher M; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany., Della Valle A; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay., Esperon P; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay.; Molecular Genetic Unit, School of Chemistry, Universidad de la República, Montevideo, Uruguay., Neffa F; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay., Bonfim Machado-Lopes TM; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil., de Oliveira Nascimento IL; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil., Pereira Toralles MB; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil., Bomfim-Palma TF; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil., Pavicic WH; Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), Hospital Italiano de Buenos Aires (HIBA), Instituto Universitario Hospital Italiano de Buenos Aires (IUHI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Autonomous city, Ciudad Autónoma de Buenos Aires, Argentina., Vaccaro CA; Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), Hospital Italiano de Buenos Aires (HIBA), Instituto Universitario Hospital Italiano de Buenos Aires (IUHI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Autonomous city, Ciudad Autónoma de Buenos Aires, Argentina., Spirandelli F; Consultorio Privado de Coloproctolgia, Hospital Español de Rosario, Rosario, Argentina., Santamaria-Quesada C; Molecular Diagnostic Laboratory. National Children Hospital, San Jose, Costa Rica., Jimenez G; Hospital Dr. Rafael Angel Calderon Guardia, Caja Costarricense del Seguro Social, San Jose, Costa Rica., Vaca-Paniagua F; Biomedicine Research Unit, Faculty of Superior Studies Iztacala, National Autonomous University of Mexico, Mexico City, 54090, Mexico.; National Laboratory of Health, Faculty of Superior Studies Iztacala, National Autonomous University of Mexico, Mexico City, 54090, Mexico., Perdomo S; Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France., López Rivera JJ; Medical Director of the Genetics Laboratory at Clinica Colsanitas, Clinica Universitaria Colombia, Keralty Group, Bogotá, Colombia., Torrezan GT; Clinical and Functional Genomics Group, International Research Center, CIPE/A.C.Camargo Cancer Center, São Paulo, Brazil., Carraro DM; Clinical and Functional Genomics Group, International Research Center, CIPE/A.C.Camargo Cancer Center, São Paulo, Brazil., Brieger A; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany., Serve H; Department of Internal Medicine 2, University Hospital, Goethe University Frankfurt, Frankfurt am Main, Germany.; German Cancer Consortium (DKTK), Partner Site Frankfurt and German Cancer Research Center (DKFZ), Heidelberg, Germany.; Frankfurt Cancer Institute, Frankfurt, Germany., Martins A; Univ Rouen Normandie, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France., Plotz G; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany. plotz@med.uni-frankfurt.de.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar 18. Date of Electronic Publication: 2026 Mar 18.
Publication Type: Journal Article
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Zeuzem+N%22">Zeuzem N</searchLink>; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Quilan+M%22">Quilan M</searchLink>; Univ Rouen Normandie, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Dominguez-Valentin+M%22">Dominguez-Valentin M</searchLink>; Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, 0379, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Baert-Desurmont+S%22">Baert-Desurmont S</searchLink>; Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Horlacher+M%22">Horlacher M</searchLink>; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Della+Valle+A%22">Della Valle A</searchLink>; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay.<br /><searchLink fieldCode="AU" term="%22Esperon+P%22">Esperon P</searchLink>; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay.; Molecular Genetic Unit, School of Chemistry, Universidad de la República, Montevideo, Uruguay.<br /><searchLink fieldCode="AU" term="%22Neffa+F%22">Neffa F</searchLink>; Centro de Oncogenetica Uruguayo. Hospital Central de las Fuerzas Armadas, Montevideo, Uruguay.<br /><searchLink fieldCode="AU" term="%22Bonfim+Machado-Lopes+TM%22">Bonfim Machado-Lopes TM</searchLink>; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22de+Oliveira+Nascimento+IL%22">de Oliveira Nascimento IL</searchLink>; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22Pereira+Toralles+MB%22">Pereira Toralles MB</searchLink>; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22Bomfim-Palma+TF%22">Bomfim-Palma TF</searchLink>; Laboratório de Imunologia e Biologia Molecular, Federal University of Bahia, Salvador-, BA, Brazil.<br /><searchLink fieldCode="AU" term="%22Pavicic+WH%22">Pavicic WH</searchLink>; Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), Hospital Italiano de Buenos Aires (HIBA), Instituto Universitario Hospital Italiano de Buenos Aires (IUHI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Autonomous city, Ciudad Autónoma de Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Vaccaro+CA%22">Vaccaro CA</searchLink>; Instituto de Medicina Traslacional e Ingeniería Biomédica (IMTIB), Hospital Italiano de Buenos Aires (HIBA), Instituto Universitario Hospital Italiano de Buenos Aires (IUHI), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Autonomous city, Ciudad Autónoma de Buenos Aires, Argentina.<br /><searchLink fieldCode="AU" term="%22Spirandelli+F%22">Spirandelli F</searchLink>; Consultorio Privado de Coloproctolgia, Hospital Español de Rosario, Rosario, Argentina.<br /><searchLink fieldCode="AU" term="%22Santamaria-Quesada+C%22">Santamaria-Quesada C</searchLink>; Molecular Diagnostic Laboratory. National Children Hospital, San Jose, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Jimenez+G%22">Jimenez G</searchLink>; Hospital Dr. Rafael Angel Calderon Guardia, Caja Costarricense del Seguro Social, San Jose, Costa Rica.<br /><searchLink fieldCode="AU" term="%22Vaca-Paniagua+F%22">Vaca-Paniagua F</searchLink>; Biomedicine Research Unit, Faculty of Superior Studies Iztacala, National Autonomous University of Mexico, Mexico City, 54090, Mexico.; National Laboratory of Health, Faculty of Superior Studies Iztacala, National Autonomous University of Mexico, Mexico City, 54090, Mexico.<br /><searchLink fieldCode="AU" term="%22Perdomo+S%22">Perdomo S</searchLink>; Genomic Epidemiology Branch, International Agency for Research on Cancer (IARC/WHO), Lyon, France.<br /><searchLink fieldCode="AU" term="%22López+Rivera+JJ%22">López Rivera JJ</searchLink>; Medical Director of the Genetics Laboratory at Clinica Colsanitas, Clinica Universitaria Colombia, Keralty Group, Bogotá, Colombia.<br /><searchLink fieldCode="AU" term="%22Torrezan+GT%22">Torrezan GT</searchLink>; Clinical and Functional Genomics Group, International Research Center, CIPE/A.C.Camargo Cancer Center, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Carraro+DM%22">Carraro DM</searchLink>; Clinical and Functional Genomics Group, International Research Center, CIPE/A.C.Camargo Cancer Center, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Brieger+A%22">Brieger A</searchLink>; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Serve+H%22">Serve H</searchLink>; Department of Internal Medicine 2, University Hospital, Goethe University Frankfurt, Frankfurt am Main, Germany.; German Cancer Consortium (DKTK), Partner Site Frankfurt and German Cancer Research Center (DKFZ), Heidelberg, Germany.; Frankfurt Cancer Institute, Frankfurt, Germany.<br /><searchLink fieldCode="AU" term="%22Martins+A%22">Martins A</searchLink>; Univ Rouen Normandie, Inserm U1245, FHU G4 Génomique, F-76000, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Plotz+G%22">Plotz G</searchLink>; Department of Internal Medicine 1, University Hospital, Goethe University, Frankfurt am Main, Germany. plotz@med.uni-frankfurt.de.
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