Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
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| Title: | Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome. |
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| Authors: | Perea-Romero I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Solarat C; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Blanco-Kelly F; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Sanchez-Navarro I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Bea-Mascato B; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Martin-Salazar E; CINBIO, Universidade de Vigo, Vigo, Spain.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain., Lorda-Sanchez I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Swafiri ST; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Avila-Fernandez A; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Martin-Merida I; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Trujillo-Tiebas MJ; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Jimenez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Garcia-Sandoval B; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital (FJD), Madrid, Spain., Minguez P; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Corton M; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Valverde D; CINBIO, Universidade de Vigo, Vigo, Spain. dianaval@uvigo.es.; Instituto de Investigación Sanitaria Galicia Sur (IIS Galicia Sur), Álvaro Cunqueiro Hospital, Vigo, Spain. dianaval@uvigo.es., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain. cayuso@fjd.es.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. cayuso@fjd.es. |
| Source: | NPJ genomic medicine [NPJ Genom Med] 2022 Jul 14; Vol. 7 (1), pp. 41. Date of Electronic Publication: 2022 Jul 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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