Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L468P
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CFTR

NM_000492.4:p.L468P

Associated Papers

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

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

Clinical characteristics of rare CFTR mutations causing cystic fibrosis in Polish population.

Zybert K et al.

Pediatric Pulmonology, 2020

Functional rescue of a misfolded eukaryotic ATP-binding cassette transporter by domain replacement.

Louie RJ et al.

The Journal of Biological Chemistry, 2010

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

20059485 (PubMed )
Supplement: supplement_1.pdf
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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."