Varaico: Literature-Extracted Genetic Variants

Gene:HPRT1
Variant:p.F178Splc
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HPRT1

NM_000194.3:p.F178Splc

Associated Papers

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

The spectrum of mutations causing HPRT deficiency: an update.

Jinnah HA et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

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

Yamada Y et al.

Nucleosides, Nucleotides & Nucleic Acids, 2004

Novel genetic mutations responsible for the HPRT deficiency and the clinical phenotypes in Japanese.

Yamada Y et al.

Advances in Experimental Medicine and Biology, 2000

[Complete and partial deficiency of HPRT].

Ogasawara N

Nihon Rinsho. Japanese Journal of Clinical Medicine, 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."