Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A252V
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CFTR

NM_000492.4:p.A252V

Associated Papers

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis.

Ratkiewicz M et al.

World Journal of Pediatrics : Wjp, 2017

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

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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."