Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.L230insFs
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CBS

NM_000071.3:p.L230insFs

Associated Papers

Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report.

Maillot F et al.

Journal of Medical Case Reports, 2008

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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."