Varaico: Literature-Extracted Genetic Variants

Gene:MMACHC
Variant:p.W157del1
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MMACHC

NM_015506.3:p.W157del1

Associated Papers

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
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