OFD1
NM_003611.3:p.K441_E442delFs
Pezzella N et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Iijima T et al.
Internal Medicine (tokyo, Japan), 2019
Macca M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2009