Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L346R
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CFTR

NM_000492.4:p.L346R

Associated Papers

The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.

Loo TW et al.

Biochemical Pharmacology, 2014

Corrector VX-809 stabilizes the first transmembrane domain of CFTR.

Loo TW et al.

Biochemical Pharmacology, 2013

Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece.

Speletas M et al.

Scandinavian Journal of Immunology, 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."