Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q996_L997Splc
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CFTR

NM_000492.4:p.Q996_L997Splc

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

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Cheng H et al.

Journal of Assisted Reproduction and Genetics, 2022

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.

Leung GK et al.

Molecular Genetics & Genomic Medicine, 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."