Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS6
Variant:p.L103_D104Splc
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NDUFS6

NM_004553.6:p.L103_D104Splc

Associated Papers

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Baris S et al.

International Journal of Molecular Sciences, 2026

Primary mitochondrial disorders and mimics: Insights from a large French cohort.

Rouzier C et al.

Annals of Clinical and Translational Neurology, 2024

38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
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