ENG
NM_001114753.3:p.A378_H379Splc
Heimdal K et al.
Clinical Genetics, 2016
Olivieri C et al.
Journal of Human Genetics, 2007
Waite KA et al.
Nature Reviews. Genetics, 2003
Bayrak-Toydemir P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0