Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH1
Variant:p.C1554*
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NOTCH1

NM_017617.5:p.C1554*

Associated Papers

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

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects.

Durbin MD et al.

Pediatric Cardiology, 2017

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