Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.M1I
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HPRT1

NM_000194.3:p.M1I

Associated Papers

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV et al.

Plos One, 2009

Gene- and tissue-specificity of mutation in Big Blue rats treated with the hepatocarcinogen N-hydroxy-2-acetylaminofluorene.

Chen T et al.

Environmental and Molecular Mutagenesis, 2001

Loss of heterozygosity and base substitution at the APRT locus in mismatch-repair-proficient and -deficient colorectal carcinoma cell lines.

Phear G et al.

Molecular and Cellular Biology, 1996

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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."