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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NOTCH3

Variant:p.G114_D121del0

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NOTCH3

NM_000435.3:p.G114_D121del0

hg38:chr19:15192277 TCTGGCAGGGAGCAGTCAGGGC>T

Associated Papers

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Rutten JW et al.

Expert Review of Molecular Diagnostics, 2014

24844136 (PubMed )

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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."