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bibliographicCitation Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M. A GPHN point mutation leading to molybdenum cofactor deficiency. Clin Genet. 2011 Dec;80(6):598–9. doi: 10.1111/j.1399-0004.2011.01709.x. PMID: 22040219.
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title A GPHN point mutation leading to molybdenum cofactor deficiency
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