Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS1
Variant:p.E396K
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NDUFS1

NM_005006.7:p.E396K

Associated Papers

Acute rhabdomyolysis as the presenting symptom in two females with a DMD mutation.

Mohamed K et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2026

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."