Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.A117S
Back to variants list

MMACHC

NM_015506.3:p.A117S

Associated Papers

Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.

Hao L et al.

Pediatric Research, 2025

Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.

Wiedemann A et al.

Cell Reports. Medicine, 2022

35764087 (PubMed )
Supplement: mmc3.xlsx › Feuil1

[Gene mutation analysis and prenatal diagnosis of four pedigrees with methymalonic aciduria].

Pan YC et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."