Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G91E
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CFTR

NM_000492.4:p.G91E

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

Leveraging Population Genomics for Individualized Correction of the Hallmarks of Alpha-1 Antitrypsin Deficiency.

Wang C et al.

Chronic Obstructive Pulmonary Diseases (miami, Fla.), 2020

Voltage-sensitive gating induced by a mutation in the fifth transmembrane domain of CFTR.

Zhang ZR et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2002

Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.

Mansoura MK et al.

Biophysical Journal, 1998

Structural cues involved in endoplasmic reticulum degradation of G85E and G91R mutant cystic fibrosis transmembrane conductance regulator.

Xiong X et al.

The Journal of Clinical Investigation, 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."