Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.R1100*
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BRPF1

NM_001003694.2:p.R1100*

Associated Papers

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

van der Laan L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

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

Zu G et al.

Cancers, 2022

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

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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