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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRPF1

Variant:p.Q302*

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BRPF1

NM_001003694.2:p.Q302*

hg38:chr3:9739303 C>T

Associated Papers

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.

Colson C et al.

Clinical Genetics, 2025

39837771 (PubMed )

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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."