PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
rs1342455785 in
LOC102723833;USH2A gene and
USHER SYNDROME, TYPE IIA
PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
PMID 26667666 2015 NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.
PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.