Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.Q222_Y223Splc
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CBS

NM_000071.3:p.Q222_Y223Splc

Associated Papers

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

Sokolová J et al.

Human Mutation, 2001

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

Janosík M et al.

American Journal of Human Genetics, 2001

Cystathionine beta-synthase mutations in homocystinuria.

Kraus JP 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."