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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXOSC1

Variant:p.E148V

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EXOSC1

NM_016046.5:p.E148V

hg38:chr10:97437229 T>A

Associated Papers

MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever.

Cekin N et al.

Gene, 2017

28483595 (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."