Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.E47*
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HPRT1

NM_000194.3:p.E47*

Associated Papers

Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus.

Duan J et al.

Human Mutation, 2004

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.

Liu HX et al.

Nature Genetics, 2001

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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."