Associated Papers
Variations in Nomenclature of Clinical Variants between Annotation Tools.
Park KJ et al.
Laboratory Medicine, 2022
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Shen F et al.
Frontiers in Genetics, 2022
Understanding the basis of Ehlers-Danlos syndrome in the era of the next-generation sequencing.
Cortini F et al.
Archives of Dermatological Research, 2019
Select a paper to view details