Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G126C
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CFTR

NM_000492.4:p.G126C

Associated Papers

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

Heterogeneous spectrum of mutations in CFTR gene from Indian patients with congenital absence of the vas deferens and their association with cystic fibrosis genetic modifiers.

Sharma H et al.

Molecular Human Reproduction, 2014

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