Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.K247_T257del0
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CBS

NM_000071.3:p.K247_T257del0

Associated Papers

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Linnebank M et al.

Human Mutation, 2004

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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."