Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G172D
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NOTCH3

NM_000435.3:p.G172D

Associated Papers

Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.

Park YH et al.

Scientific Reports, 2025

41413429 (PubMed )
Supplement: 41598_2025_26481_MOESM2_ESM.xlsx › Supplementary_Table_S2

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

Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Chen M et al.

Signal Transduction and Targeted Therapy, 2022

34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3

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

Liu JY et al.

Stroke, 2021

The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

Guo L et al.

Cns Neuroscience & Therapeutics, 2021

Targeted next‑generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.

Bu H et al.

Molecular Medicine Reports, 2019

Deep sequencing analysis to identify novel and rare variants in pain-related genes in patients with acute postoperative pain and high morphine use.

Loke MF et al.

Journal of Pain Research, 2019

Genetics of ischemic stroke: inheritance of a sporadic disorder.

Ross OA et al.

Current Neurology and Neuroscience Reports, 2009

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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."