Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.A335A
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CBS

NM_000071.3:p.A335A

Associated Papers

The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

Gaustadnes M et al.

Human Mutation, 2002

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.

de Franchis R et al.

Human Mutation, 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."