Sui-Bing Miao Hui Guo De-Xian Kong Yuan-Yuan Zhao Shu-Hong Pan Yan Jiang Xing Gao Xiao-Hua Wu
10.3389/fgene.2022.937485
Front Genet
2022 Aug 31;13:937485.
molecular analysis neuronal ceroid lipofuscinosis type 2 (cln2) splicing assay tripeptidyl peptidase i (tpp1) variant
CC BY
https://pubmed.ncbi.nlm.nih.gov/36118858/
Case Reports
PMC9471087
36118858
Case report: Analysis of novel compound heterozygous TPP1 variants in a Chinese patient with neuronal ceroid lipofuscinosis type 2
2022