Varaico: Literature-Extracted Genetic Variants

Gene:ALPG
Variant:p.R498S
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ALPG

NM_031313.3:p.R498S

Associated Papers

Whole exome sequence analysis in 51 624 participants identifies novel genes and variants associated with refractive error and myopia.

Guggenheim JA et al.

Human Molecular Genetics, 2022

35022715 (PubMed )
Supplement: hmg_r2_supplement_ddac004.pdf

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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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."