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

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Title: Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.
Authors: Konarbayeva A; National Center for Biotechnology, Astana, Kazakhstan., Atavliyeva S; National Center for Biotechnology, Astana, Kazakhstan. atavliyeva@biocenter.kz.; L.N. Gumilyov Eurasian National University, Astana, Kazakhstan. atavliyeva@biocenter.kz., Auganova D; National Center for Biotechnology, Astana, Kazakhstan., Baduanova S; National Center for Biotechnology, Astana, Kazakhstan., Tarlykov P; National Center for Biotechnology, Astana, Kazakhstan.
Source: Human genomics [Hum Genomics] 2026 May 04; Vol. 20 (1). Date of Electronic Publication: 2026 May 04.
Publication Type: Journal Article; Systematic Review; Meta-Analysis; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 42083048
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.
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  Data: <searchLink fieldCode="AU" term="%22Konarbayeva+A%22">Konarbayeva A</searchLink>; National Center for Biotechnology, Astana, Kazakhstan.<br /><searchLink fieldCode="AU" term="%22Atavliyeva+S%22">Atavliyeva S</searchLink>; National Center for Biotechnology, Astana, Kazakhstan. atavliyeva@biocenter.kz.; L.N. Gumilyov Eurasian National University, Astana, Kazakhstan. atavliyeva@biocenter.kz.<br /><searchLink fieldCode="AU" term="%22Auganova+D%22">Auganova D</searchLink>; National Center for Biotechnology, Astana, Kazakhstan.<br /><searchLink fieldCode="AU" term="%22Baduanova+S%22">Baduanova S</searchLink>; National Center for Biotechnology, Astana, Kazakhstan.<br /><searchLink fieldCode="AU" term="%22Tarlykov+P%22">Tarlykov P</searchLink>; National Center for Biotechnology, Astana, Kazakhstan.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2026 May 04; Vol. 20 (1). <i>Date of Electronic Publication: </i>2026 May 04.
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  Data: Journal Article; Systematic Review; Meta-Analysis; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101202210 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1479-7364 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214739542%22">14739542 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genomics <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1186/s40246-026-00975-2
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      – Code: eng
        Text: English
    Titles:
      – TitleFull: Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review.
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            NameFull: Konarbayeva A
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            NameFull: Atavliyeva S
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            NameFull: Auganova D
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            NameFull: Baduanova S
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            – D: 04
              M: 05
              Text: 2026 May 04
              Type: published
              Y: 2026
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              Value: 1479-7364
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              Value: 20
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