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issn 2324-9269
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publicationName Molecular genetics & genomic medicine
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bibliographicCitation Staretz-Chacham O, Schlotawa L, Wormser O, Golan-Tripto I, Birk OS, Ferreira CR, Dierks T, Radhakrishnan K. A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency. Mol Genet Genomic Med. 2020 Sep;8(9):e1167. PMID: 32048457; PMCID: PMC7507568.
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date 2020-02-12-04:00^^<http://www.w3.org/2001/XMLSchema#date>
identifier https://pubmed.ncbi.nlm.nih.gov/32048457
https://doi.org/10.1002/mgg3.1167
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language English
source https://pubmed.ncbi.nlm.nih.gov/
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title A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency
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Total number of triples: 37.