Varaico: Literature-Extracted Genetic Variants

Gene:EPHA3
Variant:p.G178R
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EPHA3

NM_005233.6:p.G178R

Associated Papers

Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel.

Seibert FS et al.

Biochemistry, 1997

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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."