Varaico: Literature-Extracted Genetic Variants

Gene:ENDOU
Variant:p.E217G
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ENDOU

NM_001172439.2:p.E217G

Associated Papers

Disease-associated mutations in the extracytoplasmic loops of cystic fibrosis transmembrane conductance regulator do not impede biosynthetic processing but impair chloride channel stability.

Hämmerle MM et al.

The Journal of Biological Chemistry, 2001

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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."