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

Autor: Magliyah, Moustafa S., Geuer, Sinje, Alsalamah, Abrar K., Lenzner, Steffen, Drasdo, Mojgan, Schatz, Patrik
Zdroj: JAMA Ophthalmology; Mar2021, Vol. 139 Issue 3, p339-343, 5p
Databáze: Complementary Index