Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.E121delFs
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BRPF1

NM_001003694.2:p.E121delFs

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

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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."