Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
Por um escritor misterioso
Last updated 22 março 2025

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…

The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect

Znhit1 controls meiotic initiation in male germ cells by coordinating with Stra8 to activate meiotic gene expression - ScienceDirect

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder - ScienceDirect

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes - ScienceDirect

SRCAP - an overview ScienceDirect Topics

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

ATPase SRCAP is a new player in cell division, uncovering molecular aspects of Floating-Harbor syndrome

Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation - ScienceDirect

The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
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