Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.Y215H
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MMACHC

NM_015506.3:p.Y215H

Associated Papers

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Liu F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.

Pinales BE et al.

Differentiation; Research in Biological Diversity, 0

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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."