Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.S93N
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MMACHC

NM_015506.3:p.S93N

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

Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.

Wei Y et al.

Journal of Neurology, 2019

[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].

Wang F et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009

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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."