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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SURF1

Variant:p.I197insFs

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SURF1

NM_003172.4:p.I197insFs

hg38:chr9:133352608 T>TGCAG

Associated Papers

SURF1 deficiency: a multi-centre natural history study.

Wedatilake Y et al.

Orphanet Journal of Rare Diseases, 2013

23829769 (PubMed )

Supplement: 1750-1172-8-96-S1.docx

Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease.

Pronicki M et al.

Journal of Clinical Pathology, 2008

17908801 (PubMed )

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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."