Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC6
Variant:p.S47R
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EXOSC6

NM_058219.3:p.S47R

Associated Papers

Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal.

Silva D et al.

Respiratory Medicine, 2016

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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."