Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.Q143_R144Splc
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MMACHC

NM_015506.3:p.Q143_R144Splc

Associated Papers

Experimental insights into MMACHC variants using a novel minigene system.

Dong Y et al.

Molecular Genetics and Metabolism, 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

Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.

Ahrens-Nicklas RC et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

Whitaker AM et al.

Applied Neuropsychology. Child, 0

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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."