Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S955P
Back to variants list

CFTR

NM_000492.4:p.S955P

Associated Papers

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

A new platform for high-throughput therapy testing on iPSC-derived lung progenitor cells from cystic fibrosis patients.

Jiang JX et al.

Stem Cell Reports, 2021

34678210 (PubMed )
Supplement: mmc3.pdf

Organoids as a personalized medicine tool for ultra-rare mutations in cystic fibrosis: The case of S955P and 1717-2A>G.

Silva IAL et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."