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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AASS

Variant:p.K104_F108delins

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AASS

NM_005763.4:p.K104_F108delins

hg38:chr7:122129427 TGCATAAGTC>T

Associated Papers

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."