A novel deletion-insertion variant of <i>RS1</i> in X-linked retinoschisis

A novel deletion-insertion variant of <i>RS1</i> in X-linked retinoschisis

<p>Structural variants such as large deletions or insertions are rarely observed in the <i>RS1</i> gene. Here, we report a 20-year-old male patient with X-linked retinoschisis (XLRS) carrying a novel deletion-insertion variant of <i>RS1</i>.</p> <p>In additi...

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Bibliographic Details
Main Author: Natsuki Higa (21610551) (author)
Other Authors: Takaaki Hayashi (636503) (author), Kei Mizobuchi (21609992) (author), Kazuki Kuniyoshi (636506) (author), Hiroyuki Kondo (2543557) (author), Tadashi Nakano (5064923) (author)
Published: 2025
Subjects:
Genetics
Science Policy
Infectious Diseases
Computational Biology
Biological Sciences not elsewhere classified
X-linked retinoschisis
RS1 gene
exome sequencing
deletion-insertion variant
structural variant
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