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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SURF1

Variant:p.Y274insFs

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SURF1

NM_003172.4:p.Y274insFs

hg38:chr9:133352072 G>GT

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

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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."