Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L145H
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CFTR

NM_000492.4:p.L145H

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

Triangulating variation in the population to define mechanisms for precision management of genetic disease.

Wang C et al.

Structure (london, England : 1993), 2022

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Han ST et al.

Jci Insight, 2018

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