Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T296I
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CFTR

NM_000492.4:p.T296I

Associated Papers

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

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients.

Kerschner JL et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

Prach L et al.

The Journal of Molecular Diagnostics : Jmd, 2013

Molecular and functional analysis of the large 5' promoter region of CFTR gene revealed pathogenic mutations in CF and CFTR-related disorders.

Giordano S et al.

The Journal of Molecular Diagnostics : Jmd, 2013

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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."