Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction

Deep computational phenotyping of genomic variants impacting the SET domain of KMT2C reveal molecular mechanisms for their dysfunction

Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental disorder characterized by intellectual disability, infantile hypotonia, severe expressive language delay, and characteristic facial appearance, with a spectrum of other distinct clinical manifestations. Pathogenic mut...

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Bibliografski detalji
Glavni autori: Salomão Dória Jorge, Young-In Chi, Jose Lizarraga Mazaba, Neshatul Haque, Jessica Wagenknecht, Brian C. Smith, Brian F. Volkman, Angela J. Mathison, Gwen Lomberk, Michael T. Zimmermann, Raul Urrutia
Format: Članak
Jezik:English
Izdano: Frontiers Media S.A. 2023-11-01
Serija:Frontiers in Genetics
Teme:
genomic variants
H3K4 methyltransferase
Kmt2C
paralog annotation
SET domain
Online pristup:https://www.frontiersin.org/articles/10.3389/fgene.2023.1291307/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2023.1291307/full

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