Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T854T
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CFTR

NM_000492.4:p.T854T

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

CFTR Variant Frequencies and Newborn Screening Panel Performance in the Diverse CF Population Receiving Care in the State of Georgia.

Barr E et al.

International Journal of Neonatal Screening, 2025

41133697 (PubMed )
Supplement: IJNS-11-00085-s001.zip › IJNS-3739900-supplementary.pdf

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

Identification and Characterization of a Rare Exon 22 Duplication in CFTR in Two Families.

Ahting S et al.

International Journal of Molecular Sciences, 2025

40429633 (PubMed )
Supplement: ijms-26-04487-s001.zip › CFTR2_25September2024.xlsx › CFTR2_variants__genomic_info

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis Genotypes in People with Cystic Fibrosis from the U.S. Patient Registry.

Salinas DB et al.

Annals of the American Thoracic Society, 2023

Cis variants identified in F508del complex alleles modulate CFTR channel rescue by small molecules.

Baatallah N et al.

Human Mutation, 2018

Alteration of protein function by a silent polymorphism linked to tRNA abundance.

Kirchner S et al.

Plos Biology, 2017

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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."