Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.E183G
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GOT1

NM_002079.3:p.E183G

Associated Papers

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Sha Y et al.

Bmc Medical Genetics, 2019

31370824 (PubMed )
Supplement: 12881_2019_864_MOESM2_ESM.xlsx › Sheet1

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW et al.

Nature Genetics, 1999

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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."