Emil Alexov to Pedigree
This is a "connection" page, showing publications Emil Alexov has written about Pedigree.
Connection Strength
0.176
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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. Nat Commun. 2020 07 23; 11(1):3698.
Score: 0.043
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ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons. Hum Mol Genet. 2015 Sep 01; 24(17):4848-61.
Score: 0.030
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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. J Alzheimers Dis. 2014; 39(1):23-7.
Score: 0.027
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A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet. 2014 Jan 15; 23(2):418-33.
Score: 0.026
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A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Hum Mol Genet. 2013 Sep 15; 22(18):3789-97.
Score: 0.026
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An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. Hum Mol Genet. 2012 Oct 15; 21(20):4497-507.
Score: 0.024