Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.T575T
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NOTCH3

NM_000435.3:p.T575T

Associated Papers

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_013

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

33942994 (PubMed )
Supplement: CNS-27-930-s001.docx

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 › ST6

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

Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease.

Guerreiro RJ et al.

Neurobiology of Aging, 2012

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.

Mosca L et al.

Journal of the Neurological Sciences, 2011

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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."