Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.A104_V108delins
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SDS

NM_006843.3:p.A104_V108delins

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

Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

Tiranti V et al.

Human Molecular Genetics, 1999

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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."