Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.I240T
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CBS

NM_000071.3:p.I240T

Associated Papers

Acute pancreatitis as a key to diagnosis of hyperhomocysteinemia in a 12-year-old boy caused by CBS gene mutation.

Wang S et al.

Lancet (london, England), 2023

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

Kasak L et al.

Human Mutation, 2019

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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."