Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.H1235L
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NOTCH3

NM_000435.3:p.H1235L

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

Imetelstat-mediated alterations in fatty acid metabolism to induce ferroptosis as a therapeutic strategy for acute myeloid leukemia.

Bruedigam C et al.

Nature Cancer, 2024

37904045 (PubMed )
Supplement: 43018_2023_653_MOESM22_ESM.xlsx › Extended_Data_Fig._9c_HemePACT

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Acquired mutations and transcriptional remodeling in long-term estrogen-deprived locoregional breast cancer recurrences.

Priedigkeit N et al.

Breast Cancer Research : Bcr, 2021

33407744 (PubMed )
Supplement: 13058_2020_1379_MOESM2_ESM.xlsx › S4

Genetic and epigenetic study of an Alzheimer's disease family with monozygotic triplets.

Zhang M et al.

Brain : a Journal of Neurology, 2019

Vascular cognitive impairment associated with NOTCH3 Exon 33 mutation: A case report.

Sun Y et al.

Medicine, 2019

Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects.

Mishra A et al.

Brain : a Journal of Neurology, 2019

30859180 (PubMed )
Supplement: awz024_supplementary_text.pdf

Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.

Sassi C et al.

Neurobiology of Aging, 2018

29544907 (PubMed )
Supplement: mmc3.xlsx › ST10

Systematic Review of Cysteine-Sparing NOTCH3 Missense Mutations in Patients with Clinical Suspicion of CADASIL.

Muiño E et al.

International Journal of Molecular Sciences, 2017

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )
Supplement: supplement_2.doc

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L et al.

Journal of the Neurological Sciences, 2011

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.

Ungaro C et al.

Journal of Neuroscience Research, 2009

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

Gene symbol: NOTCH3. Disease: CADASIL.

Ungaro C et al.

Human Genetics, 2008

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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."