Varaico: Literature-Extracted Genetic Variants

Gene:NHS
Variant:p.T908N
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NHS

NM_001291867.2:p.T908N

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."