Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y122H
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CFTR

NM_000492.4:p.Y122H

Associated Papers

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

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

Basic and clinical genetic studies on male infertility in Iran during 2000-2016: A review.

Moghbelinejad S et al.

International Journal of Reproductive Biomedicine, 2018

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS et al.

Andrology, 2018

Factors influencing readthrough therapy for frequent cystic fibrosis premature termination codons.

Pranke I et al.

Erj Open Research, 2018

29497617 (PubMed )
Supplement: 00080-2017_supp.pdf

Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R et al.

Molecular Human Reproduction, 2006

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R et al.

Journal of Andrology, 0

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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."