Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.R73_M74delFs
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MMACHC

NM_015506.3:p.R73_M74delFs

Associated Papers

Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.

Chen J et al.

Bmc Neurology, 2022

Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases.

Wang X et al.

Orphanet Journal of Rare Diseases, 2019

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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."