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Article

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

Human genomics - 4 May 2026

Konarbayeva Amina, Atavliyeva Sabina, Auganova Dana, Baduanova Salima, Tarlykov Pavel

Abstract excerpt

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 populations. METHODS: Following PRISMA guidelines, three databases were searched (January 2000 to December 2025) for studies...

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Source

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Identifiers

PMID: 42083048
DOI: 10.1186/s40246-026-00975-2
PMCID: PMC13288584

Genes

GBA1

Variants

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