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Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease
Khan, Mubeen, Cornelis, Stéphanie S., Khan, Muhammad Imran, Elmelik, Duaa, Manders, Eline, Bakker, Sem, Derks, Ronny, Neveling, Kornelia, van de Vorst, Maartje, Gilissen, Christian, Meunier, Isabelle,Language:
english
Journal:
Human Mutation
DOI:
10.1002/humu.23787
Date:
June, 2019
File:
PDF, 1.87 MB
english, 2019