Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.T424N
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CBS

NM_000071.3:p.T424N

Associated Papers

Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.

Gupta S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.

Chen X et al.

Human Mutation, 2006

Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.

Wang L et al.

Human Molecular Genetics, 2005

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

Shan X et al.

Human Molecular Genetics, 2001

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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."