Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene
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| Description | scientific article published on 24 June 2020 |
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author: Jolanta Wierzba Arkadiusz Mański Karolina Pierzynowska Lidia Gaffke Paulina Anikiej Grzegorz Węgrzyn |
| Publication date | June 24, 2020 |
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