reference/23387756

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bibliographicCitation	Diesen C, Saarinen A, Pihko H, Rosenlew C, Cormand B, Dobyns WB, Dieguez J, Valanne L, Joensuu T, Lehesjoki AE. POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease. J Med Genet. 2004 Oct;41(10):e115. PMID: 15466003; PMCID: PMC1735594.
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title	POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease
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