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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BHMT

Variant:p.D220del1

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BHMT

NM_001713.3:p.D220del1

hg38:chr5:79126077 TGAC>T

Associated Papers

Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.

Esser AJ et al.

Iscience, 2022

36105582 (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."