ENG
NM_001114753.3:p.G230Splc
Major T et al.
Journal of Clinical Medicine, 2021
Letteboer TG et al.
Human Genetics, 2005
Lesca G et al.
Human Mutation, 2004
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0