Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V232L
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CFTR

NM_000492.4:p.V232L

Associated Papers

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis.

Tóth A et al.

Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2022

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.

Tammaro C et al.

International Journal of Molecular Sciences, 2014

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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."