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9. A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum. Tingaud-Sequeira A, Trimouille A, Salaria M, Stapleton R, Claverol S, Plaisant C, Bonneu M, Lopez E, Arveiler B, Lacombe D, Rooryck C. Hum Genet; 2021 Jun 26; 140(6):933-944. PubMed ID: 33475861 [Abstract] [Full Text] [Related]
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