Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.L78Q
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HPRT1

NM_000194.3:p.L78Q

Associated Papers

Discovering functionally important sites in proteins.

Cagiada M et al.

Nature Communications, 2023

Hypoxanthine guanine phosphoribosyltransferase (HPRT) mutations in the Asian population.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2011

Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: novel mutations and the spectrum of Japanese mutations.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2008

[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Yamada Y

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2008

Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations.

Yamada Y et al.

Molecular Genetics and Metabolism, 2007

Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families.

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

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."