Genetic & Genomic MedicineHuman GeneticsPeer-reviewed
Rare homozygous cilia gene variants identified in consanguineous congenital heart disease patients
Daniel A. Baird, Hira Mubeen, Canan Doğanlı…·Lars Allan Larsen
The paper identifies rare homozygous variants in cilia genes associated with congenital heart defects in consanguineous Pakistani patients.
6 citations