Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.R189_L192del0
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MMACHC

NM_015506.3:p.R189_L192del0

Associated Papers

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.

Hwang N et al.

Molecular Genetics & Genomic Medicine, 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."