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Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.

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Title: Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
Authors: Rodrigues, Rita1 (AUTHOR) rita.s.rodrigues@chsj.min-saude.pt, Quental, Rita2 (AUTHOR), Santos Silva, Renato1 (AUTHOR), Costa, Lídia3 (AUTHOR), Estrela-Silva, Sérgio1 (AUTHOR)
Source: Ophthalmic Genetics. Jun2024, Vol. 45 Issue 3, p262-266. 5p.
Database: Academic Search Ultimate
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  Data: Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
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  Data: <searchLink fieldCode="JN" term="%22Ophthalmic+Genetics%22">Ophthalmic Genetics</searchLink>. Jun2024, Vol. 45 Issue 3, p262-266. 5p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=178881030
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1080/13816810.2023.2291670
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      – Code: eng
        Text: English
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        PageCount: 5
        StartPage: 262
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      – TitleFull: Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants.
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            NameFull: Rodrigues, Rita
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            NameFull: Quental, Rita
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            NameFull: Santos Silva, Renato
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            NameFull: Estrela-Silva, Sérgio
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            – D: 01
              M: 06
              Text: Jun2024
              Type: published
              Y: 2024
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              Value: 45
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