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Paper Details

Long-read single molecule real-time (SMRT) sequencing of GBA1 locus in Gaucher disease national cohort from Argentina reveals high frequency of complex allele underlying severe skeletal phenotypes: Collaborative study from the Argentine Group for Diagnosis and Treatment of Gaucher Disease.
Mol Genet Metab Rep
4
2021
Author NameAffiliation
Dejian ZhaoYale University Center for Genome Analysis, Yale School of Medicine
Pramod K MistryYale School of Medicine
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