A Comparative Evaluation of the Genetic Variant Spectrum in the USH2A Gene in Russian Patients with Isolated and Syndromic Forms of Retinitis Pigmentosa
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES(2024)
Key words
retinitis pigmentosa,Usher syndrome,USH2A,inherited retinal diseases,IRD,p.(Trp3955*),p.(Glu4445_Ser4449delinsAspLeu),c.8682-9A>G
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