Genotype–phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review

Abstract Background Gaucher disease exhibits substantial genetic heterogeneity across populations. Asian populations remain understudied despite representing diverse genetic backgrounds. The systematic review was conducted to identify GBA1 mutations and genotype-phenotype correlations in Asian popul...

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Auteurs principaux:	Amina Konarbayeva, Sabina Atavliyeva, Dana Auganova, Salima Baduanova, Pavel Tarlykov
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2026-05-01
Collection:	Human Genomics
Sujets:	Gaucher disease Lysosomal storage disorders GBA1 gene Genetic variation Epidemiology Genotype–phenotype correlation
Accès en ligne:	https://doi.org/10.1186/s40246-026-00975-2
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