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Mutations in SAMD7 Cause Autosomal-Recessive Macular Dystrophy with or Without Cone Dysfunction

Miriam Bauwens,Elifnaz Celik,Dinah Zur,Siying Lin,Mathieu Quinodoz,Michel Michaelides,Andrew R. Webster,Filip Van Den Broeck,Bart P. Leroy,Leah Rizel,Abigail R. Moye,Audrey Meunier,Hoai Viet Tran,Alexandre P. Moulin,Quinten Mahieu,Mattias Van Heetvelde,Gavi Arno,Carlo Rivolta,Elfride De Baere,Tamar Ben-Yosef

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

Cited 1|Views48
Key words
retina,macular dystrophy,SAMD7,mutation,inherited retinal diseases
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