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Phenotype variability of the CLN1-patients
| Mutation | Allele inherited with | Phenotype | Reference |
| Y109D (c325T > G) | LINCL | ||
| M1I (c3G > A) | [42] | ||
| Y247H (c739T > C) | JNCL | ||
| F85del (c252-254delCTT) | Exon skipping | ||
| LINCL | [17] | ||
| (IVS6-1G > T) | |||
| G108R (c322G > C) | R151X (c451C > T) | ANCL | [14] |
| L219Q (c656T > A) | R151X (c451C > T) | JNCL | [52] |
