Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.R2053C
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NOTCH2

NM_024408.4:p.R2053C

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

39823011 (PubMed )
Supplement: tp-13-12-2144-supplementary.pdf

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

[Clinical features and gene mutation analysis of patients with Alagille syndrome].

Liu XG et al.

Zhonghua Yi Xue Za Zhi, 2021

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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."