Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS7
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
D'Alessandro LC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
Braunholz D et al.
European Journal of Human Genetics : Ejhg, 2012
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