Varaico: Literature-Extracted Genetic Variants

Gene:ATXN3
Variant:p.G23ins4
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ATXN3

NM_001164782.2:p.G23ins4

Associated Papers

Downsloping high-frequency hearing loss due to inner ear tricellular tight junction disruption by a novel ILDR1 mutation in the Ig-like domain.

Kim NK et al.

Plos One, 2015

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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."