Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC1
Variant:p.M172I
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EXOSC1

NM_016046.5:p.M172I

Associated Papers

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect.

Zytsar MV et al.

Genes, 2020

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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."