Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E1124del1
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CFTR

NM_000492.4:p.E1124del1

Associated Papers

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E et al.

Plos One, 2013

Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Audrezet MP et al.

The Journal of Molecular Diagnostics : Jmd, 2008

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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."