Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.C731S
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JAG1

NM_000214.3:p.C731S

Associated Papers

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

Feng X et al.

Scientific Reports, 2024

38245625 (PubMed )
Supplement: 41598_2024_52357_MOESM1_ESM.xlsx › Sheet1

Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.

Sullivan JM et al.

The Journal of Clinical Investigation, 2020

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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."