Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.K112E
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HPGDS

NM_014485.3:p.K112E

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

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic

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

Structural basis of hematopoietic prostaglandin D synthase activity elucidated by site-directed mutagenesis.

Pinzar E et al.

The Journal of Biological Chemistry, 2000

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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."