Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.T191T
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CBS

NM_000071.3:p.T191T

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

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

Kozich V et al.

Human Molecular Genetics, 1995

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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."