Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.E148Q
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EXOSC1

NM_016046.5:p.E148Q

Associated Papers

Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.

Talaat HS et al.

Mediterranean Journal of Rheumatology, 2020

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

Cekin N et al.

Gene, 2017

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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."