Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C917G
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JAG1

NM_000214.3:p.C917G

Associated Papers

Novel JAG1 variants leading to Alagille syndrome in two Chinese cases.

Feng X et al.

Scientific Reports, 2024

JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects.

de Filippis T et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

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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."