Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P1226S
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NOTCH3

NM_000435.3:p.P1226S

Associated Papers

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.

Cao Y et al.

International Journal of Molecular Sciences, 2024

39201482 (PubMed )
Supplement: ijms-25-08796-s001.zip › ijms-3129956-supplementary.pdf

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Yu H et al.

Frontiers in Oncology, 2022

36072793 (PubMed )
Supplement: Table_2.xlsx › germline_alterations

Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease.

Liu JY et al.

Stroke, 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."