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