Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.I188V
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CBS

NM_000071.3:p.I188V

Associated Papers

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.

Kasak L et al.

Human Mutation, 2019

Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.

Dimster-Denk D et al.

G3 (bethesda, Md.), 2013

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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."