Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.V180insFs
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CBS

NM_000071.3:p.V180insFs

Associated Papers

Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations.

Chamberlin ME et al.

American Journal of Human Genetics, 2000

Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.

Chamberlin ME et al.

The Journal of Clinical Investigation, 1996

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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."