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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SURF1

Variant:p.Q251Splc

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SURF1

NM_003172.4:p.Q251Splc

hg38:chr9:133352430 C>T

Associated Papers

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.

Maalej M et al.

Biochemical and Biophysical Research Communications, 2018

29481804 (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."