Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.C66Y
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HPRT1

NM_000194.3:p.C66Y

Associated Papers

Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency.

Korol CB et al.

Journal of Clinical Immunology, 2023

A comparison of somatic mutational spectra in healthy study populations from Russia, Sweden and USA.

Noori P et al.

Carcinogenesis, 2005

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

Duan J et al.

Human Mutation, 2004

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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."