Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.
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| Title: | Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation. |
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| Authors: | Fernández-Hernández L; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Enríquez-Flores S; Laboratorio de Biomoléculas y Salud Infantil, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Hernández-Martínez NL; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Abreu-González M; Laboratorio Genos Médica, Mexico City C.P.06700, Mexico.; Centro Médico ABC, Mexico City C.P. 05300, Mexico., Lieberman-Hernández E; Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico., Rodríguez-González G; Subdirección de Servicios Clínicos, Genética, Hospital Regional de Alta Especialidad de Zumpango, Zumpango C.P. 55600, Mexico., Reyes-Ruvalcaba S; Universidad Cuauhtémoc, Campus Querétaro, Querétaro C.P. 76060, Mexico., Reyna-Fabián ME; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico. |
| Source: | Genes [Genes (Basel)] 2026 Feb 12; Vol. 17 (2). Date of Electronic Publication: 2026 Feb 12. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41751615 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Fernández-Hernández+L%22">Fernández-Hernández L</searchLink>; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.<br /><searchLink fieldCode="AU" term="%22Enríquez-Flores+S%22">Enríquez-Flores S</searchLink>; Laboratorio de Biomoléculas y Salud Infantil, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.<br /><searchLink fieldCode="AU" term="%22Hernández-Martínez+NL%22">Hernández-Martínez NL</searchLink>; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.<br /><searchLink fieldCode="AU" term="%22Abreu-González+M%22">Abreu-González M</searchLink>; Laboratorio Genos Médica, Mexico City C.P.06700, Mexico.; Centro Médico ABC, Mexico City C.P. 05300, Mexico.<br /><searchLink fieldCode="AU" term="%22Lieberman-Hernández+E%22">Lieberman-Hernández E</searchLink>; Departamento de Genética Humana, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico.<br /><searchLink fieldCode="AU" term="%22Rodríguez-González+G%22">Rodríguez-González G</searchLink>; Subdirección de Servicios Clínicos, Genética, Hospital Regional de Alta Especialidad de Zumpango, Zumpango C.P. 55600, Mexico.<br /><searchLink fieldCode="AU" term="%22Reyes-Ruvalcaba+S%22">Reyes-Ruvalcaba S</searchLink>; Universidad Cuauhtémoc, Campus Querétaro, Querétaro C.P. 76060, Mexico.<br /><searchLink fieldCode="AU" term="%22Reyna-Fabián+ME%22">Reyna-Fabián ME</searchLink>; Laboratorio de Biología Molecular, Instituto Nacional de Pediatría, Secretaría de Salud, Mexico City C.P. 04530, Mexico. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Feb 12; Vol. 17 (2). <i>Date of Electronic Publication: </i>2026 Feb 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41751615 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes17020231 Languages: – Code: eng Text: English Titles: – TitleFull: Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fernández-Hernández L – PersonEntity: Name: NameFull: Enríquez-Flores S – PersonEntity: Name: NameFull: Hernández-Martínez NL – PersonEntity: Name: NameFull: Abreu-González M – PersonEntity: Name: NameFull: Lieberman-Hernández E – PersonEntity: Name: NameFull: Rodríguez-González G – PersonEntity: Name: NameFull: Reyes-Ruvalcaba S – PersonEntity: Name: NameFull: Reyna-Fabián ME IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 02 Text: 2026 Feb 12 Type: published Y: 2026 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 17 – Type: issue Value: 2 Titles: – TitleFull: Genes Type: main |
| ResultId | 1 |
