Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.G481S
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NOTCH1

NM_017617.5:p.G481S

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM6_ESM.xlsx › clinvar_annotation

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Debiec RM et al.

Heart (british Cardiac Society), 2022

35288444 (PubMed )
Supplement: heartjnl-2021-320428supp001.pdf

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Koyama T et al.

Bmc Cancer, 2019

30709382 (PubMed )
Supplement: 12885_2019_5313_MOESM2_ESM.xlsx › supplementary_2_filtered
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