Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.G85R
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CFTR

NM_000492.4:p.G85R

Associated Papers

Rethinking CFTR variant responsiveness: Differential responses to vanzacaftor and elexacaftor.

Rodriguez Mier N et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 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

Clinical and genetic features of cystic fibrosis in Japan.

Kozawa Y et al.

Journal of Human Genetics, 2023

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

What can the CF registry tell us about rare CFTR-mutations? A Belgian study.

De Wachter E et al.

Orphanet Journal of Rare Diseases, 2017

28830496 (PubMed )
Supplement: 13023_2017_694_MOESM1_ESM.docx

Abnormal SDS-PAGE migration of cytosolic proteins can identify domains and mechanisms that control surfactant binding.

Shi Y et al.

Protein Science : a Publication of the Protein Society, 2012

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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."