Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.R1586_N1587insFs
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NOTCH1

NM_017617.5:p.R1586_N1587insFs

Associated Papers

Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.

Hunter JM et al.

Cold Spring Harbor Molecular Case Studies, 2022

Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.

Miller CR et al.

Cold Spring Harbor Molecular Case Studies, 2020

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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."