Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.C389R
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BRPF1

NM_001003694.2:p.C389R

Associated Papers

Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.

Morison LD et al.

European Journal of Medical Genetics, 2024

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

Zu G et al.

Cancers, 2022

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."