Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R1358S
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CFTR

NM_000492.4:p.R1358S

Associated Papers

Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.

Muilwijk D et al.

The European Respiratory Journal, 2022

35086832 (PubMed )
Supplement: ERJ-00508-2021.Supplement.pdf

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › INHOUSE_CFTR

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Audrezet MP et al.

The Journal of Molecular Diagnostics : Jmd, 2008

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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."