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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MMACHC

Variant:p.R189G

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MMACHC

NM_015506.3:p.R189G

hg38:chr1:45508931 C>G

Associated Papers

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Ding S et al.

Orphanet Journal of Rare Diseases, 2023

37770946 (PubMed )

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