Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1A2
Variant:p.E50G
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ALDH1A2

NM_003888.4:p.E50G

Associated Papers

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).

Chen CH et al.

Biomolecules, 2021

34680056 (PubMed )
Supplement: biomolecules-11-01423-s001.zip › biomolecules-1366594-supplementary.xlsx › Supplementary_Table_2

SORBS2 is a genetic factor contributing to cardiac malformation of 4q deletion syndrome patients.

Liang F et al.

Elife, 2021

34099102 (PubMed )
Supplement: elife-67481-supp8.xlsx › Sheet1

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.

Lin Y et al.

Bmc Medical Genetics, 2018

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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."