Varaico: Literature-Extracted Genetic Variants

Gene:MMAA
Variant:p.S249S
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MMAA

NM_172250.3:p.S249S

Associated Papers

Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.

Barretta F et al.

Genes, 2023

37239447 (PubMed )
Supplement: genes-14-01087-s001.zip › Supplementary_Table_S1_S1.xlsx › S4__MITNGS_S4_

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP et al.

Human Mutation, 2004

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