Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L53V
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CFTR

NM_000492.4:p.L53V

Associated Papers

The Effect of Complex Alleles of the CFTR Gene on the Clinical Manifestations of Cystic Fibrosis and the Effectiveness of Targeted Therapy.

Krasnova M et al.

International Journal of Molecular Sciences, 2023

Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Wong SL et al.

Iscience, 2022

Pharmacological chaperones improve intra-domain stability and inter-domain assembly via distinct binding sites to rescue misfolded CFTR.

Baatallah N et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Baatallah N et al.

Human Mutation, 2018

CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.

Claustres M et al.

Human Mutation, 2017

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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."