Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect
Por um escritor misterioso
Last updated 22 dezembro 2024
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a dis…
Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.
Whole-exome sequencing in undiagnosed genetic diseases: Interpreting 119 trios
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
PDF) DNA End Resection: Facts and Mechanisms
PDF) DNA End Resection: Facts and Mechanisms
The Human SRCAP Chromatin Remodeling Complex Promotes DNA-End Resection - ScienceDirect
Schematic representation of the SRCAP gene and positions of known SRCAP
Floating–Harbor syndrome and polycystic kidneys associated with SRCAP mutation - Reschen - 2012 - American Journal of Medical Genetics Part A - Wiley Online Library
Single Amino Acid Change Underlies Distinct Roles of H2A.Z Subtypes in Human Syndrome - ScienceDirect
PDF) Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor Syndrome (FLHS) carrying a heterozygous SRCAP mutation (p.Arg2444)
PDF) Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
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