reference/12893227

http://rdf.ncbi.nlm.nih.gov/pubchem/reference/12893227

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bibliographicCitation	Dodson LM, Baldan A, Nissbeck M, Gunja SMR, Bonnen PE, Aubert G, Birchansky S, Virtanen A, Bertuch AA. From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Human Mutation. 2019 Sep 15;40(12):2414–29. doi: 10.1002/humu.23898.
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date	2019-09-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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language	English
source	https://www.crossref.org/ https://pubmed.ncbi.nlm.nih.gov/
title	From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants
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