Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.R102C
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NDUFS8

NM_002496.4:p.R102C

Associated Papers

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

Canine osteosarcoma genome sequencing identifies recurrent mutations in DMD and the histone methyltransferase gene SETD2.

Gardner HL et al.

Communications Biology, 2019

31341965 (PubMed )
Supplement: 42003_2019_487_MOESM10_ESM.xlsx › Metastatic_Tumor

Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox.

Gowda VK et al.

Annals of Indian Academy of Neurology, 0

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