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Transcriptional Activation of Pericentromeric Satellite Repeats and Disruption of Centromeric Clustering upon Proteasome Inhibition.Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
P50
description
researcher
@en
wetenschapper
@nl
name
Raquel S Silva
@en
Raquel S Silva
@nl
type
label
Raquel S Silva
@en
Raquel S Silva
@nl
prefLabel
Raquel S Silva
@en
Raquel S Silva
@nl
P31
P496
0000-0002-1455-3082