Varaico: Literature-Extracted Genetic Variants

Gene:JAG1
Variant:p.P163T
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JAG1

NM_000214.3:p.P163T

Associated Papers

Clinical and genetic characteristics of patients with Alagille syndrome in China: identification of six novel JAG1 and NOTCH2 mutations.

Chen L et al.

Translational Pediatrics, 2024

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

Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.

Fang Y et al.

Frontiers in Pediatrics, 2021

Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Li A et al.

Npj Breast Cancer, 2019

31428676 (PubMed )
Supplement: 41523_2019_115_MOESM1_ESM.pdf

Frequency and distribution of Notch mutations in tumor cell lines.

Mutvei AP et al.

Bmc Cancer, 2015

25907971 (PubMed )
Supplement: 12885_2015_1278_MOESM2_ESM.xlsx › suppdatagrejen
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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."