Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.R45S
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HPRT1

NM_000194.3:p.R45S

Associated Papers

[Clinical characteristics and treatment of two children with Lesch-Nyhan syndrome].

Yang G et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

Accumulation of somatic mutations in proliferating T cell clones from children treated for leukemia.

Finette BA et al.

Leukemia, 2001

Somatic cell mutations in cancer epidemiology.

Albertini RJ et al.

Iarc Scientific Publications, 1997

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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."