Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.E106K
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MMACHC

NM_015506.3:p.E106K

Associated Papers

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.

Fathi M et al.

Scientific Reports, 2025

A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.

Kaur R et al.

Amino Acids, 2021

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."