A splice-site variant in the () gene identified in a symptomatic carrier woman.

Fuente: PubMed

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Bibliographic Details
Main Authors:	Domoto, Aya, Kuniyoshi, Kazuki, Suga, Akiko, Mizobuchi, Kei, Yoshitake, Kazutoshi, Kawai, Yosuke, Omae, Yosuke, Tokunaga, Katsushi, Sawa, Miki, Hayashi, Takaaki, Mano, Fukutaro, Sakamoto, Masuo, Iwahashi, Chiharu, Nakano, Tadashi, Iwata, Takeshi, Kusaka, Shunji
Format:	Artículo científico
Language:	en
Published:	Ophthalmic genetics 2026
Subjects:	Humans Female Adult Retinitis Pigmentosa Eye Proteins Heterozygote Pedigree RNA Splice Sites Visual Acuity Mutation Exome Sequencing Membrane Proteins GTP-Binding Proteins
Online Access:	Acceder al recurso
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