Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.P370S
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BRPF1

NM_001003694.2:p.P370S

Associated Papers

Bromodomain and PHD Finger-Containing Protein 1: From Functions to a Developmental Disorder, Cancer, and Therapeutics.

Razavi A et al.

Results and Problems in Cell Differentiation, 2025

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.

Naseer MI et al.

Frontiers in Genetics, 2020

Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

Yan K et al.

American Journal of Human Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."