Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration

Tianxiao Huan,Shun-Yun Cheng,Bo Tian,Claudio Punzo,Haijiang Lin,Mark Daly,Johanna M Seddon

Ophthalmology Science（2023）

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摘要

New missense rare variants in the genes and were associated with maculopathies. Results suggest that novel genes related to the coagulation and immune pathways may be involved in the pathogenesis of macular diseases.

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关键词

Coagulation pathway, Immune pathways,Macular degeneration,Maculopathy,Targeted sequencing,Whole-exome sequencing

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