reference/28442345

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/28442345

Outgoing Links

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publicationName	The American Journal of Human Genetics
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bibliographicCitation	Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. The American Journal of Human Genetics. 2020 May;106(5):623–31. doi: 10.1016/j.ajhg.2020.03.009.
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date	2020-05-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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title	Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
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