reference/25035736

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/25035736

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publicationName	Human Genetics
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bibliographicCitation	Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, Bamshad MJ, Li JZ, Kubisch C, Glover TW, Gordon LB. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Human Genetics. 2018 Nov 19;137(11-12):921–39. doi: 10.1007/s00439-018-1957-1.
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date	2018-11-19-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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language	English
source	https://pubmed.ncbi.nlm.nih.gov/ https://scigraph.springernature.com/ https://www.crossref.org/
title	Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
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