Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 with a Recessively Inherited Macular Dystrophy

Moustafa S. Magliyah, Sinje Geuer, Abrar K. Alsalamah, Steffen Lenzner, Mojgan Drasdo, Patrik Schatz

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Biochemistry, Genetics and Molecular Biology