Varaico: Literature-Extracted Genetic Variants

Gene:BRD1
Variant:p.P179L
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BRD1

NM_001304808.3:p.P179L

Associated Papers

Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotype.

Yamada N et al.

Human Mutation, 1998

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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."