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A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

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Title: A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
Authors: Elbagoury, Nagham Maher1,2 (AUTHOR) nm.el-bagoury@nrc.sci.eg, Tawfik, Caroline Atef3,4 (AUTHOR), Abdel-Aleem, Asmaa Fawzy1,2 (AUTHOR), Fathy, Heba Mahmoud1,2 (AUTHOR), Baddar, Dina Nabil4,5 (AUTHOR), Essawi, Mona Lotfi1,2 (AUTHOR)
Source: Orphanet Journal of Rare Diseases. 5/25/2025, Vol. 20 Issue 1, p1-11. 11p.
Database: Academic Search Ultimate
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DbLabel: Academic Search Ultimate
An: 185426482
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
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  Data: <searchLink fieldCode="AR" term="%22Elbagoury%2C+Nagham+Maher%22">Elbagoury, Nagham Maher</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> nm.el-bagoury@nrc.sci.eg</i><br /><searchLink fieldCode="AR" term="%22Tawfik%2C+Caroline+Atef%22">Tawfik, Caroline Atef</searchLink><relatesTo>3,4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Abdel-Aleem%2C+Asmaa+Fawzy%22">Abdel-Aleem, Asmaa Fawzy</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fathy%2C+Heba+Mahmoud%22">Fathy, Heba Mahmoud</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Baddar%2C+Dina+Nabil%22">Baddar, Dina Nabil</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Essawi%2C+Mona+Lotfi%22">Essawi, Mona Lotfi</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 5/25/2025, Vol. 20 Issue 1, p1-11. 11p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=185426482
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s13023-025-03813-1
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      – Code: eng
        Text: English
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        PageCount: 11
        StartPage: 1
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      – TitleFull: A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
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            NameFull: Elbagoury, Nagham Maher
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            NameFull: Tawfik, Caroline Atef
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            NameFull: Abdel-Aleem, Asmaa Fawzy
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            NameFull: Fathy, Heba Mahmoud
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            NameFull: Baddar, Dina Nabil
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            NameFull: Essawi, Mona Lotfi
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            – D: 25
              M: 05
              Text: 5/25/2025
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              Y: 2025
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