Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.E219*
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BRPF1

NM_001003694.2:p.E219*

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

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases.

Marziali E et al.

Ophthalmic Genetics, 2024

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Kunisetty B et al.

Investigative Ophthalmology & Visual Science, 2024

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

Zu G et al.

Cancers, 2022

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Demeulenaere S et al.

European Journal of Medical Genetics, 2019

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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."