Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN1
Variant:p.R52H
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SPTBN1

NM_003128.3:p.R52H

Associated Papers

CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.

Theis JL et al.

Circulation. Genomic and Precision Medicine, 2022

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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."