Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S308*
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CFTR

NM_000492.4:p.S308*

Associated Papers

Multimodal single-cell transcriptomics with patient-specific iPSC-derived airway organoids as a drug screening approach for cystic fibrosis with nonsense mutations.

Tsai PH et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Generation of human induced pluripotent stem cells from cystic fibrosis patient carrying nonsense mutation (p.S308X) in CFTR gene.

Khor W et al.

Stem Cell Research, 2022

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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."