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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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Bibliographic Details
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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ISSN:11108630
DOI:10.1186/s43042-025-00659-x