Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q1012fs
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CFTR

NM_000492.4:p.Q1012fs

Associated Papers

Cystic fibrosis in Pakistan: population harbouring rare variants non-responsive to CFTR modulators and the dilemma of poor health facilities.

Safdar A et al.

Molecular Biology Reports, 2025

Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.

Waheed N et al.

Molecular Biology Reports, 2024

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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."