Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K464Q
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CFTR

NM_000492.4:p.K464Q

Associated Papers

Cystic fibrosis-causing variants in Chinese patients with congenital absence of the vas deferens: a cohort and meta-analysis.

Lu Y et al.

Asian Journal of Andrology, 2025

An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.

Wang M et al.

Journal of Assisted Reproduction and Genetics, 2024

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China.

Qu X et al.

Scientific Reports, 2023

36604502 (PubMed )
Supplement: 41598_2022_26384_MOESM1_ESM.xlsx › clinical_information

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

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Genetic analysis and intracytoplasmic sperm injection outcomes of Chinese patients with congenital bilateral absence of vas deferens.

Cheng H et al.

Journal of Assisted Reproduction and Genetics, 2022

CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

Wilkinson DJ et al.

The Journal of General Physiology, 1996

Sequence homologies between nucleotide binding regions of CFTR and G-proteins suggest structural and functional similarities.

Manavalan P et al.

Febs Letters, 1995

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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."