Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.G399delFs
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CAT

NM_001752.4:p.G399delFs

Associated Papers

Isolated supravalvular aortic stenosis: functional haploinsufficiency of the elastin gene as a result of nonsense-mediated decay.

Urbán Z et al.

Human Genetics, 2000

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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."