Zanetti A et al.
Human Genomics, 2024
Demydchuk M et al.
Nature Communications, 2017
Dvorakova L et al.
Clinical Genetics, 2017
Galvis J et al.
Jimd Reports, 2015
Chang JH et al.
Human Genetics, 2005
Lissens W et al.
Journal of Inherited Metabolic Disease, 1997