Varaico: Literature-Extracted Genetic Variants

Gene:BRPF1
Variant:p.W478*
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BRPF1

NM_001003694.2:p.W478*

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

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

Morison LD et al.

European Journal of Medical Genetics, 2024

Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.

Kose CC et al.

American Journal of Medical Genetics. Part A, 2023

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