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Journal of Neurogenetics Volume 26, 2012 - Issue 3-4: Obaid Siddiqi at 80 and Neurogenetics in India
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Research Article

Clinical, In Silico, and Experimental Evidence for Pathogenicity of Two Novel Splice Site Mutations in the SH3TC2 Gene

Petra LaššuthováDNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech RepublicCorrespondence[email protected]
,
Martin GregorInstitute of Molecular Genetics, Department of Transgenic Models of Diseases, Czech Academy of Sciences, Prague, Czech Republic
,
Lenka SarnováInstitute of Molecular Genetics, Department of Transgenic Models of Diseases, Czech Academy of Sciences, Prague, Czech Republic
,
Eliška MachalováDNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic;Institute of Molecular Genetics, Department of Transgenic Models of Diseases, Czech Academy of Sciences, Prague, Czech Republic
,
Radek SedláčekInstitute of Molecular Genetics, Department of Transgenic Models of Diseases, Czech Academy of Sciences, Prague, Czech Republic
&
Pavel SeemanDNA laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
Pages 413-420 | Received 27 Mar 2012, Accepted 09 Jul 2012, Published online: 05 Sep 2012

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