Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.E136E
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MMACHC

NM_015506.3:p.E136E

Associated Papers

Late-onset cobalamin C disease presenting with acute cerebellar ataxia.

Wei Y et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

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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."