Varaico: Literature-Extracted Genetic Variants

Gene:OCA2
Variant:p.A794T
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OCA2

NM_000275.3:p.A794T

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.

Narisawa A et al.

Human Molecular Genetics, 2012

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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."