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publicationName Journal of Human Genetics
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bibliographicCitation Abuduxikuer K, Zou L, Wang L, Chen L, Wang J. Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty. Journal of Human Genetics. 2020 Jan 21;65(4):387–96. doi: 10.1038/s10038-019-0719-9.
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date 2020-01-21-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/31965062
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language English
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title Novel NGLY1 gene variants in Chinese children with global developmental delay, microcephaly, hypotonia, hypertransaminasemia, alacrimia, and feeding difficulty
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Total number of triples: 39.