Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y1307C
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CFTR

NM_000492.4:p.Y1307C

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

DNAJB12 and Hsp70 triage arrested intermediates of N1303K-CFTR for endoplasmic reticulum-associated autophagy.

He L et al.

Molecular Biology of the Cell, 2021

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 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

Multiple membrane-cytoplasmic domain contacts in the cystic fibrosis transmembrane conductance regulator (CFTR) mediate regulation of channel gating.

He L et al.

The Journal of Biological Chemistry, 2008

Nucleotide binding domains of human CFTR: a structural classification of critical residues and disease-causing mutations.

Eudes R et al.

Cellular and Molecular Life Sciences : Cmls, 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."