Varaico: Literature-Extracted Genetic Variants

Gene:RIPPLY3
Variant:p.T52S
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RIPPLY3

NM_018962.3:p.T52S

Associated Papers

A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication.

Hong N et al.

Journal of Translational Medicine, 2018

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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."