Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS7
Variant:p.A6Splc
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NDUFS7

NM_024407.5:p.A6Splc

Associated Papers

Novel intronic variant in NDUFS7 gene results in mitochondrial complex I assembly defect with early basal ganglia and midbrain involvement with progressive neuroimaging findings.

Oikarainen J et al.

Mitochondrion, 2025

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