Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y161C
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CFTR

NM_000492.4:p.Y161C

Associated Papers

General trends in the calnexin-dependent expression and pharmacological rescue of clinical CFTR variants.

Tedman A et al.

Elife, 2025

41379933 (PubMed )
Supplement: elife-107180-supp1.xlsx › CANX_KO_Counts

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

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

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

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

Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Graeber SY et al.

Journal of Personalized Medicine, 2021

Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles.

Yuan P et al.

Andrology, 2019

Investigating CFTR and KCa3.1 Protein/Protein Interactions.

Klein H et al.

Plos One, 2016

The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

Roth EK et al.

Plos One, 2011

Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland.

Scotet V et al.

Human Mutation, 2003

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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."