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pro vyhledávání: '"Donna Bautista"'
Autor:
Terry-Lynn Young, Darren D. O’Rielly, Jim Houston, Justin A. Pater, Donna Bautista, Jane Green, Hoda Rajabi, James Whelan, Nelly Abdelfatah, Tammy Benteau, Amy Sheaves, Dante Galutira
Publikováno v:
Eur J Hum Genet
Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. Therapeutic trials in patients depend on identifying causal ABCA4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254b0735b14bd4d73f59a0b771571194
https://europepmc.org/articles/PMC7316815/
https://europepmc.org/articles/PMC7316815/
