Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.G52R
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NOTCH3

NM_000435.3:p.G52R

Associated Papers

Targeted exonic sequencing identifies novel variants in a cerebral small vessel disease cohort.

Dunn PJ et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Solid-type adenoid cystic carcinoma of the breast, a distinct molecular entity enriched in NOTCH and CREBBP mutations.

Massé J et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cochran JN et al.

Cold Spring Harbor Molecular Case Studies, 2019

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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."