Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K163_T164Splc
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CFTR

NM_000492.4:p.K163_T164Splc

Associated Papers

Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Pereira SV et al.

Scientific Reports, 2019

[CFTR gene sequencing in a group of Chilean patients with cystic fibrosis].

Lay-Son R G et al.

Revista Chilena De Pediatria, 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."