Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C229G
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JAG1

NM_000214.3:p.C229G

Associated Papers

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Sullivan JM et al.

The Journal of Clinical Investigation, 2020

Defective intracellular transport and processing of JAG1 missense mutations in Alagille syndrome.

Morrissette JD et al.

Human Molecular Genetics, 2001

Jagged1 mutations in alagille syndrome.

Spinner NB et al.

Human Mutation, 2001

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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."