Associated Papers
A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.
Chen TY et al.
American Journal of Medical Genetics. Part A, 2025
Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.
Chouery E et al.
Clinical Genetics, 2024
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity.
Blakes AJM et al.
European Journal of Human Genetics : Ejhg, 2021
Select a paper to view details