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Identification of a missense EMC1 variant in a FEVR-associated family. (A) FEVR pedigrees, Sanger sequencing analysis, and amino acids alignment in a Chinese FEVR-associated family. Patients are denoted in black. Black arrows indicate the proband of the family. (B) Fundus image of the proband's bilateral eyes. (C) Fundus fluorescein angiography of the proband's affected father.
