Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC3
Variant:p.E147K
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EXOSC3

NM_016042.4:p.E147K

Associated Papers

Membraneless condensates by Rapsn phase separation as a platform for neuromuscular junction formation.

Xing G et al.

Neuron, 2021

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL et al.

American Journal of Human Genetics, 2005

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K et al.

Journal of Medical Genetics, 2004

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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."