CLN5
NM_006493.4:p.A72S
Badilla-Porras R et al.
Orphanet Journal of Rare Diseases, 2022
Siintola E et al.
Biochimica Et Biophysica Acta, 2006
Sharp JD et al.
Human Mutation, 2003
Wheeler RB et al.
American Journal of Human Genetics, 2002