Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L387fs
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CFTR

NM_000492.4:p.L387fs

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

Clinical characteristics and genetic mutations of 10 Chinese children with cystic fibrosis or cystic frbrosis transmembrane conductance regulator-related disorders.

Tan S et al.

Chinese Medical Journal, 2024

37678334 (PubMed )
Supplement: cm9-137-1753-s001.pdf

Analysis of Clinical Manifestations, Imaging Features, and Gene Mutation Characteristics of 6 Children with Cystic Fibrosis in China.

Chu Y et al.

Evidence-based Complementary and Alternative Medicine : Ecam, 2021

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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."