Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.N110fs
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MMACHC

NM_015506.3:p.N110fs

Associated Papers

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.

Su L et al.

Orphanet Journal of Rare Diseases, 2024

The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.

Wood WD et al.

Pediatric Nephrology (berlin, Germany), 2022

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.

Hu S et al.

Bmc Medical Genetics, 2018

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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."