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bibliographicCitation Bosch DGM, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FPM, Lupski JR, Murakami Y, de Vries BBA. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. European Journal of Human Genetics. 2015 Mar 25;23(12):1689–93. doi: 10.1038/ejhg.2015.42.
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title Cerebral visual impairment and intellectual disability caused by PGAP1 variants
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