Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R153H
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NOTCH3

NM_000435.3:p.R153H

Associated Papers

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Veltra D et al.

Expert Review of Molecular Diagnostics, 2023

Targeted next-generation sequencing of dedifferentiated chondrosarcoma in the skull base reveals combined TP53 and PTEN mutations with increased proliferation index, an implication for pathogenesis.

Gao L et al.

Oncotarget, 2016

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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."