Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C276Y
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JAG1

NM_000214.3:p.C276Y

Associated Papers

Not only Alagille syndrome. Syndromic paucity of interlobular bile ducts secondary to HNF1β deficiency: a case report and literature review.

Pinon M et al.

Italian Journal of Pediatrics, 2019

Genes, proteins and complexes: the multifaceted nature of FHL family proteins in diverse tissues.

Shathasivam T et al.

Journal of Cellular and Molecular Medicine, 2010

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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."