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Article

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

Heart (British Cardiac Society) - 24 Jun 2022

Debiec Radoslaw Marek, Hamby Stephen E, Jones Peter D, Safwan Kassem, Sosin Michael, Hetherington Simon Lee, Sprigings David, Sharman David, Lee Kelvin, Salahshouri Pegah, Wheeldon Nigel, Chukwuemeka Andrew, Boutziouka Vasiliki, Elamin Mohamed, Coolman Sue, Asiani Manish, Kharodia Shireen, Skinner Gregory J, Samani Nilesh J, Webb Tom R, Bolger Aidan P

Abstract excerpt

INTRODUCTION: Bicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated. AIM: The aim of our study was to provide an estimate of familial and sporadic BAV disease attributable to NOTCH1 mutations. METHODS: The population of our study consisted of...

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Identifiers

PMID: 35288444
DOI: 10.1136/heartjnl-2021-320428
PMCID: PMC9240330

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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