Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS8
Variant:p.M147I
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NDUFS8

NM_002496.4:p.M147I

Associated Papers

Rapid exome sequencing for children with severe acute encephalopathy - A case series.

Habib C et al.

European Journal of Medical Genetics, 2024

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.

Stranneheim H et al.

Genome Medicine, 2021

33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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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."