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bibliographicCitation Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK. Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder. Hum Genet. 2019 Dec;138(11-12):1259–66. doi: 10.1007/s00439-019-02065-x. PMID: 31555905.
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title Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
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