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Genetic and Clinical Features of Blau Syndrome among Chinese Patients with Uveitis.

Ophthalmology - 1 Jul 2022

Zhong Zhenyu, Ding Jiadong, Su Guannan, Liao Weiting, Gao Yu, Zhu Yunyun, Deng Yang, Li Fuzhen, Du Liping, Gao Yuan, Yang Peizeng

Abstract excerpt

PURPOSE: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology call for cautious interpretation of variants as causative of a monogenic disorder by stringent standards. We aimed to reclassify the pathogenicity of nucleotide binding oligomerization domain containing 2 (NOD2) variants according to the ACMG guidelines and to characterize clinical features in...

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PMID: 35314268
DOI: 10.1016/j.ophtha.2022.03.014

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