ArticleMolecular genetics and metabolism reports2022

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.

Minja Pehrsson et al.PubMed ↗Full text ↗Publisher ↗

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