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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التفاصيل البيبلوغرافية

الحاوية / القاعدة:	Frontiers in Genetics
المؤلفون الرئيسيون:	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
التنسيق:	مقال
اللغة:	الإنجليزية
منشور في:	Frontiers Media S.A. 2023-11-01
الموضوعات:	genomic variants H3K4 methyltransferase Kmt2C paralog annotation SET domain
الوصول للمادة أونلاين:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1291307/full