Varaico: Literature-Extracted Genetic Variants

Gene:NDUFC2
Variant:p.H58L
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NDUFC2

NM_004549.6:p.H58L

Associated Papers

An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.

Marra F et al.

Biomolecules, 2021

Analysis of Human Mutations in the Supernumerary Subunits of Complex I.

Dang QL et al.

Life (basel, Switzerland), 2020

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.

Alahmad A et al.

Embo Molecular Medicine, 2020

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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."