Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks
Mol Genet Metab Rep. 2022 Aug 27;33:100911. doi: 10.1016/j.ymgmr.2022.100911.
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Aug 27, 2022