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

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

Kirchner S et al.

Plos Biology, 2017

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