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Paper Details

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC-RPEs model.
Hum Mutat
2
2021
-RPE, -RPEs, 731 base pair deletion, Chr2:g.112751488_112752218 del, IRDs, Inherited retinal degenerations, MERTK, MERTK mutations, MERTK transcript, MERTK variants, Mer tyrosine kinase protooncogene, RPE, c, c.1296+, exon 8, exon 9, hiPSC, hiPSC-RPE, hiPSC-RPE model, hiPSC-RPEs model, humaninduced, humaninduced pluripotent stem cell (hiPSC) lines, intron 8, intron 8 donor splice site variant, peripheral blood mononuclear cells, progressive retinal degeneration, retinal degeneration, retinal pigment epithelium, tyrosine
Author NameAffiliation
Shyamanga BorooahShiley Eye Institute, University of California San Diego
Henry FerreyraShiley Eye Institute, University of California San Diego
Kelly A FrazerInstitute for Genomic Medicine, University of California
Kelly A FrazerRady Children's Hospital
Kelly A FrazerInstitute for Genomic Medicine, University of California
Kelly A FrazerRady Children's Hospital
Radha AyyagariShiley Eye Institute, University of California San Diego
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