Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.L453delFs
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CFTR

NM_000492.4:p.L453delFs

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 novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD).

Feng J et al.

Gene, 2019

Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.

Yang X et al.

Fertility and Sterility, 2015

[Detection of promoter region of CFTR gene in Chinese congenital bilateral absence of vas deferens].

Wu X et al.

Zhonghua Yi Xue Za Zhi, 2015

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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."