Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1142I
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CFTR

NM_000492.4:p.T1142I

Associated Papers

Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.

Gao X et al.

Nature Communications, 2024

Structural basis for CFTR inhibition by CFTRinh-172.

Young PG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

The metabolic genomic atlas reveals potential drivers and clinically relevant insights into the etiology of esophageal squamous cell carcinoma.

Liu X et al.

Theranostics, 2022

36168622 (PubMed )
Supplement: thnov12p6160s2.xlsx › Table_S2

Association of CFTR gene mutation with bronchial asthma.

Maurya N et al.

The Indian Journal of Medical Research, 2012

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Lázaro C et al.

Human Mutation, 1999

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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."