Varaico: Literature-Extracted Genetic Variants

Gene:THBS2
Variant:p.S880delFs
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THBS2

NM_003247.5:p.S880delFs

Associated Papers

Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.

Gilbert MA et al.

Human Mutation, 2019

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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."