PAH
NM_000277.3:p.S439Splc
Chinsky JM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Ohlsson A et al.
Jimd Reports, 2017
Oscarson M et al.
Lakartidningen, 2016
Dursun A et al.
Jimd Reports, 2011