reference/648268

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/648268

Outgoing Links

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publicationName	European Journal of Medical Genetics
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bibliographicCitation	Lugli L, Ciancia S, Bertucci E, Lucaccioni L, Calabrese O, Madeo S, Berardi A, Iughetti L. Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings. European Journal of Medical Genetics. 2021 Feb;64(2):104136. doi: 10.1016/j.ejmg.2021.104136.
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date	202102
identifier	https://pubmed.ncbi.nlm.nih.gov/33444820 https://doi.org/10.1016/j.ejmg.2021.104136
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language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://www.crossref.org/
title	Homozygous n.64C>T mutation in mitochondrial RNA-processing endoribonuclease gene causes cartilage hair hypoplasia syndrome in two siblings
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