Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
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| Description | scientific article published on 2 November 2016 |
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author: Julien Thevenon Frank Kooy Catherine Creuzot-Garcher Bart L Loeys Paul Kuentz Christian Gilissen Ange-Line Bruel |
| Publication date | November 2, 2016 |
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| Missing/wrong data? | Edit Wikidata item |