Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1149A
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CFTR

NM_000492.4:p.S1149A

Associated Papers

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Identifying the molecular target sites for CFTR potentiators GLPG1837 and VX-770.

Yeh HI et al.

The Journal of General Physiology, 2019

Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.

Cui G et al.

Pflugers Archiv : European Journal of Physiology, 2012

Potentiation of effect of PKA stimulation of Xenopus CFTR by activation of PKC: role of NBD2.

Chen Y et al.

American Journal of Physiology. Cell Physiology, 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."