Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K598E
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CFTR

NM_000492.4:p.K598E

Associated Papers

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Genetic testing in pancreatitis.

Ooi CY et al.

Gastroenterology, 2010

Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.

Keiles S et al.

Pancreas, 2006

CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients.

Bernardino AL et al.

Jop : Journal of the Pancreas, 2003

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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."