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Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis.

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Title: Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis.
Authors: Natarajan, Srikrupa N.1 (AUTHOR), Ansar, Samdani2 (AUTHOR), Sripriya, Sarangapani1 (AUTHOR), Parveen, Sen3 (AUTHOR), Gupta, Ravi4 (AUTHOR), Vetrivel, Umashankar5 (AUTHOR), Sinnakarupan, Mathavan1 (AUTHOR) mathavans@gmail.com
Source: Egyptian Journal of Medical Human Genetics. 2/17/2025, Vol. 26 Issue 1, p1-12. 12p.
Database: Academic Search Ultimate
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An: 183186285
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  Data: Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis.
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  Data: <searchLink fieldCode="AR" term="%22Natarajan%2C+Srikrupa+N%2E%22">Natarajan, Srikrupa N.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ansar%2C+Samdani%22">Ansar, Samdani</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sripriya%2C+Sarangapani%22">Sripriya, Sarangapani</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Parveen%2C+Sen%22">Parveen, Sen</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gupta%2C+Ravi%22">Gupta, Ravi</searchLink><relatesTo>4</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Vetrivel%2C+Umashankar%22">Vetrivel, Umashankar</searchLink><relatesTo>5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sinnakarupan%2C+Mathavan%22">Sinnakarupan, Mathavan</searchLink><relatesTo>1</relatesTo> (AUTHOR)<i> mathavans@gmail.com</i>
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  Data: <searchLink fieldCode="JN" term="%22Egyptian+Journal+of+Medical+Human+Genetics%22">Egyptian Journal of Medical Human Genetics</searchLink>. 2/17/2025, Vol. 26 Issue 1, p1-12. 12p.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=183186285
RecordInfo BibRecord:
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      – Type: doi
        Value: 10.1186/s43042-025-00659-x
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 12
        StartPage: 1
    Titles:
      – TitleFull: Whole-exome sequencing and molecular dynamics confirm pathogenicity of a novel SLC6A6 mutation in Leber congenital amaurosis.
        Type: main
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            NameFull: Natarajan, Srikrupa N.
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            NameFull: Ansar, Samdani
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            NameFull: Sripriya, Sarangapani
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            NameFull: Parveen, Sen
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            NameFull: Gupta, Ravi
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            NameFull: Vetrivel, Umashankar
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            NameFull: Sinnakarupan, Mathavan
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            – D: 17
              M: 02
              Text: 2/17/2025
              Type: published
              Y: 2025
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              Value: 26
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          Titles:
            – TitleFull: Egyptian Journal of Medical Human Genetics
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