Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.V351fs
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BRPF1

NM_001003694.2:p.V351fs

Associated Papers

BRPF1-KAT6A/KAT6B Complex: Molecular Structure, Biological Function and Human Disease.

Zu G et al.

Cancers, 2022

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 Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F 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."