Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.P426L
Back to variants list

NOTCH3

NM_000435.3:p.P426L

Associated Papers

A novel NOTCH3 mutation as a potential molecular cause of IPAH and ovarian cancer.

Jonas K et al.

Kardiologia Polska, 2025

Headache and NOTCH3 Gene Variants in Patients with CADASIL.

Szymanowicz O et al.

Neurology International, 2023

Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

van den Heuvel LM et al.

Genes, 2020

33066286 (PubMed )
Supplement: genes-11-01191-s001.pdf

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Likely_Benign

Update on genetic disorders affecting white matter.

Kaye EM

Pediatric Neurology, 2001

[Ataxia revealing Biermer's disease associated with autoimmune polyendrocrinopathy].

Hosseini H et al.

Revue Neurologique, 1998

[Pure cerebellar syndrome associated with anti-Hu antibodies].

Pradat PF et al.

Revue Neurologique, 1995

[Symptomatic heterozygotic adrenoleukodystrophy in adults. 10 cases].

Ménage P et al.

Revue Neurologique, 1993

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."