Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

PURPOSE: Heterozygous truncating variants of TOPORS have been reported to cause autosomal dominant retinitis pigmentosa (adRP). The purpose of this study was to investigate whether all heterozygous truncating variants, including copy number variants (CNVs), are pathogenic. METHODS: TOPORS truncating...

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Detalles Bibliográficos
Autores principales: Wang, Junwen, Wang, Yingwei, Jiang, Yi, Li, Xueqing, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Sun, Wenmin, Wang, Panfeng, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123486/
https://www.ncbi.nlm.nih.gov/pubmed/35579903
http://dx.doi.org/10.1167/iovs.63.5.19

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9123486/
https://www.ncbi.nlm.nih.gov/pubmed/35579903
http://dx.doi.org/10.1167/iovs.63.5.19

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