Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R899*
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CFTR

NM_000492.4:p.R899*

Associated Papers

A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

Perreault-Micale C et al.

Molecular Genetics & Genomic Medicine, 2015

Targeting translational read-through of premature termination mutations in BMPR2 with PTC124 for pulmonary arterial hypertension.

Long L et al.

Pulmonary Circulation, 0

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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."