Varaico: Literature-Extracted Genetic Variants

Gene:MMADHC
Variant:p.Y140*
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MMADHC

NM_015702.3:p.Y140*

Associated Papers

Characterization of functional domains of the cblD (MMADHC) gene product.

Jusufi J et al.

Journal of Inherited Metabolic Disease, 2014

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D et al.

The New England Journal of Medicine, 2008

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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."