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A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa

Natalya Ogorodova,Anna Stepanova,Vitaly Kadyshev, Svetlana Kuznetsova, Olga Ismagilova,Alena Chukhrova,Aleksandr Polyakov,Sergey Kutsev,Olga Shchagina

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES(2024)

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Key words
retinitis pigmentosa,Usher syndrome,USH2A,inherited retinal diseases,IRD,p.(Trp3955*),p.(Glu4445_Ser4449delinsAspLeu),c.8682-9A>G
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