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Variants of LRP2, Encoding a Multifunctional Cell‐surface Endocytic Receptor, Associated with Hearing Loss and Retinal Dystrophy

Rabia Faridi,Rizwan Yousaf,Shoujun Gu,Sayaka Inagaki,Amy E. Turriff,Keith Pelstring,Bin Guan,Amelia Naik,Andrew J. Griffith,Samuel Mawuli Adadey,Elvis Twumasi Aboagye,Gordon A. Awandare,Robert J. Morell,Ekaterini Tsilou, Amanda G. Noyes,Laura A. G. Sulmonte,Ambroise Wonkam,Isabelle Schrauwen,Suzanne M. Leal,Hela Azaiez,Carmen C. Brewer,Sheikh Riazuddin,Robert B. Hufnagel,Michael Hoa,Wadih M. Zein,J. Karl de Dios,Thomas B. Friedman

CLINICAL GENETICS（2023）

Cited 6|Views59
Key words
deafness,Donnai-Barrow syndrome,LRP2,megalin,retinal dystrophy,RNAseq,stria vascularis
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