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olivopontocerebellar hypoplasia
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Homozygous EXOSC3 Mutation c.92G -> C, p.G31A is a Founder Mutation Causing Severe Pontocerebellar Hypoplasia Type 1 Among the Czech Roma
2013 |
Second Faculty of Medicine
publication
Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations
2013 |
Second Faculty of Medicine
