Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G1543R
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NOTCH1

NM_017617.5:p.G1543R

Associated Papers

Loss-of-function variants in ciliary genes confer high risk for tetralogy of Fallot.

Zhou Y et al.

Science Advances, 2025

41071877 (PubMed )
Supplement: sciadv.adt0836_tables_s1_to_s6.zip › adt0836_table_s1.xlsx › Table_S1

NOTCH1 mitochondria localization during heart development promotes mitochondrial metabolism and the endothelial-to-mesenchymal transition in mice.

Wang J et al.

Nature Communications, 2024

39550366 (PubMed )
Supplement: 41467_2024_54407_MOESM4_ESM.xlsx › Sheet1

The First Korean Case of NUP98-NSD1 and a Novel SNRK-ETV6 Fusion in a Pediatric Therapy-related Acute Myeloid Leukemia Patient Detected by Targeted RNA Sequencing.

Lim HJ et al.

Annals of Laboratory Medicine, 2021

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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."