Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.R173S
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HPGDS

NM_014485.3:p.R173S

Associated Papers

Characterization of a Compound Heterozygous SLC2A9 Mutation That Causes Hypouricemia.

Yoon J et al.

Biomedicines, 2021

34572357 (PubMed )
Supplement: biomedicines-09-01172-s001.zip › biomedicines-1248799-supplementary.pdf

Distinct mutations with different inheritance mode caused similar retinal dystrophies in one family: a demonstration of the importance of genetic annotations in complicated pedigrees.

Chen X et al.

Journal of Translational Medicine, 2018

29843741 (PubMed )
Supplement: 12967_2018_1522_MOESM2_ESM.xlsx › Sheet1
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