Varaico: Literature-Extracted Genetic Variants

Gene:CPLANE1
Variant:p.G542*
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CPLANE1

NM_001384732.1:p.G542*

Associated Papers

Correction of CFTR function in intestinal organoids to guide treatment of cystic fibrosis.

Ramalho AS et al.

The European Respiratory Journal, 2021

Pharmacological induction of CFTR function in patients with cystic fibrosis: mutation-specific therapy.

Kerem E

Pediatric Pulmonology, 2005

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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."