Heterozygous KIDINS220/ARMS...

Human Molecular Genetics 2016 / 03

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

Josifova, Dragana J., Monroe, Glen R., Tessadori, Federico, de Graaff, Esther, van der Zwaag, Bert, Mehta, Sarju G., Harakalova, Magdalena, Duran, Karen J., Savelberg, Sanne M.C., Nijman, Isaäc J., Ju
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Language:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddw082
Date:
March, 2016
File:
PDF, 1.32 MB
english, 2016
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