Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P355S
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CFTR

NM_000492.4:p.P355S

Associated Papers

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Sweat chloride and immunoreactive trypsinogen in infants carrying two CFTR mutations and not affected by cystic fibrosis.

Castellani C et al.

Archives of Disease in Childhood, 2017

Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.

Kalaora S et al.

Oncotarget, 2016

26819371 (PubMed )
Supplement: oncotarget-07-5110-s002.xlsx › Genome_sequencing

Conserved allosteric hot spots in the transmembrane domains of cystic fibrosis transmembrane conductance regulator (CFTR) channels and multidrug resistance protein (MRP) pumps.

Wei S et al.

The Journal of Biological Chemistry, 2014

A 10-year large-scale cystic fibrosis carrier screening in the Italian population.

Picci L et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2010

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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."