Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P1290S
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CFTR

NM_000492.4:p.P1290S

Associated Papers

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

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

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

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

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.

Grangeia A et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2008

Molecular analysis of defects in the CFTR gene and AZF locus of the Y chromosome in male infertility.

Sobczyńska-Tomaszewska A et al.

The Journal of Reproductive Medicine, 2006

A novel missense mutation P1290S at exon-20 of the CFTR gene in a Portuguese patient with congenital bilateral absence of the vas deferens.

Grangeia A et al.

Fertility and Sterility, 2005

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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."