Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R156*
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NOTCH3

NM_000435.3:p.R156*

Associated Papers

Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting.

Peng Y et al.

Bmc Medical Genomics, 2023

38062428 (PubMed )
Supplement: 12920_2023_1753_MOESM2_ESM.xlsx › Sheet1

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.

Juhosová M et al.

Neurogenetics, 2023

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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."