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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CBS

Variant:p.D444H

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CBS

NM_000071.3:p.D444H

hg38:chr21:43058862 C>G

Associated Papers

[Inherited metabolic disorders of the transsulfuration pathway].

Haraguchi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 1992

1404882 (PubMed )

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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."