reference/30450469

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/30450469

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bibliographicCitation	Dong X, Tan NB, Howell KB, Barresi S, Freeman JL, Vecchio D, Piccione M, Radio FC, Calame D, Zong S, Eggers S, Scheffer IE, Tan TY, Van Bergen NJ, Tartaglia M, Christodoulou J, White SM. Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification. The American Journal of Human Genetics. 2020 Apr;106(4):559–69. doi: 10.1016/j.ajhg.2020.02.014.
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date	2020-04-02^^<http://www.w3.org/2001/XMLSchema#date>
identifier	https://pubmed.ncbi.nlm.nih.gov/PMC7118692 https://doi.org/10.1016/j.ajhg.2020.02.014 https://pubmed.ncbi.nlm.nih.gov/32197075
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
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