A novel deletion-insertion variant of RS1 in X-linked retinoschisis

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

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Номзүйн дэлгэрэнгүй
Үндсэн зохиолч:	Natsuki Higa (21610551) (author)
Бусад зохиолчид:	Takaaki Hayashi (636503) (author), Kei Mizobuchi (21609992) (author), Kazuki Kuniyoshi (636506) (author), Hiroyuki Kondo (2543557) (author), Tadashi Nakano (5064923) (author)
Хэвлэсэн:	2025
Нөхцлүүд:	Genetics Science Policy Infectious Diseases Computational Biology Biological Sciences not elsewhere classified X-linked retinoschisis RS1 gene exome sequencing deletion-insertion variant structural variant
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!

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

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