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Novel ABCA4 Mutation Leads to Loss of a Conserved C-Terminal Motif: Implications for Predicting Pathogenicity Based on Genetic Testing
Wangtiraumnuay, Nutsuchar, Capasso, Jenina, Tsukikawa, Mai, Levin, Alex, Biswas-Fiss, EstherLanguage:
english
Journal:
European Journal of Ophthalmology
DOI:
10.5301/ejo.5001019
Date:
February, 2018
File:
PDF, 326 KB
english, 2018