Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R518*
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CFTR

NM_000492.4:p.R518*

Associated Papers

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Michorowska S

Pharmaceuticals (basel, Switzerland), 2021

Novel ABCC6 mutations in pseudoxanthoma elasticum.

Chassaing N et al.

The Journal of Investigative Dermatology, 2004

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X et al.

European Journal of Human Genetics : Ejhg, 2003

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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."