Varaico: Literature-Extracted Genetic Variants

Gene:CBS
Variant:p.G462insFs
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CBS

NM_000071.3:p.G462insFs

Associated Papers

Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.

Ziegler SG et al.

Disease Models & Mechanisms, 2023

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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."