Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1396A
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CFTR

NM_000492.4:p.T1396A

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

36409994 (PubMed )
Supplement: salinas_data_supplement.pdf

Aggregation of misfolded proteins can be a selective process dependent upon peptide composition.

Milewski MI et al.

The Journal of Biological Chemistry, 2002

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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."