Article

Eye movement defects in KO zebrafish reveals SRPK3 as a causative gene for an X-linked intellectual disability

2023-03-20

Abstract excerpt

<title>Abstract</title> <p>Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. X-linked ID (XLID) disorders, caused by defects in genes on the X chromosome, affect 1.7 out of 1,000 males. Employing exome sequencing, we identified three missense mutations (c.475C > G; p.H159D, c.1373C > A; p.T458N, and c.1585G > A; p.E5...

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Literature Corpus work: 5a51150e-fa39-5a8b-8ad1-11e7b03348b9
DOI: 10.21203/rs.3.rs-2683050/v1

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