Associated Papers
Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.
Rus CM et al.
Orphanet Journal of Rare Diseases, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
34867278 (PubMed )
Supplement: Data_Sheet_1.PDF
Underdiagnoses resulting from variant misinterpretation: Time for systematic reanalysis of whole exome data?
Al-Murshedi F et al.
European Journal of Medical Genetics, 2019
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