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Alexov, Emil
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Alexov, Emil
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Academic Article
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
Academic Article
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Academic Article
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.
Academic Article
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
Academic Article
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.
Academic Article
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
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