Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.Q118H
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MMACHC

NM_015506.3:p.Q118H

Associated Papers

Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.

Zheng P 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: mmc1.pdf

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Wang SJ et al.

Metabolic Brain Disease, 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."