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date 2019-03-07-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://doi.org/10.1016/j.ajhg.2019.01.007
https://pubmed.ncbi.nlm.nih.gov/PMC6408318
https://pubmed.ncbi.nlm.nih.gov/30773277
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http://rdf.ncbi.nlm.nih.gov/pubchem/journal/428
language English
source https://www.crossref.org/
https://pubmed.ncbi.nlm.nih.gov/
title Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
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