Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1351R
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CFTR

NM_000492.4:p.K1351R

Associated Papers

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

CFTR gene mutations and polymorphism are associated with non-obstructive azoospermia: From case-control study.

Jiang L et al.

Gene, 2017

Increased frequency of CFTR gene mutations identified in Indian infertile men with non-CBAVD obstructive azoospermia and spermatogenic failure.

Sharma H et al.

Gene, 2014

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.

Hou JW et al.

Asian 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."