• Mutation; HGNC; HGNC:2153; CNGB3; Simple; p.Thr383Ilefs*13 (c.1148delC); ClinVar=VCV000005225; Zygosity=Heterozygous (PubMed=32011687).
  
• Mutation; HGNC; HGNC:2153; CNGB3; Simple; c.1663-2137C>T (chr8:g.87618576G>A); ClinVar=VCV000635823; Zygosity=Heterozygous; Note=Incorporates cryptic exon 14b (PubMed=32011687).
  

PubMed=30567931; DOI=10.1242/dev.171686; PMCID=PMC6340149
Capowski E.E., Samimi K., Mayerl S.J., Phillips M.J., Pinilla I., Howden S.E., Saha J., Jansen A.D., Edwards K.L., Jager L.D., Barlow K., Valiauga R., Erlichman Z., Hagstrom A., Sinha D., Sluch V.M., Chamling X., Zack D.J., Skala M.C., Gamm D.M.
Reproducibility and staging of 3D human retinal organoids across multiple pluripotent stem cell lines.
Development 146:dev171686.1-dev171686.13(2019)

PubMed=32011687; DOI=10.1093/hmg/ddaa016; PMCID=PMC7158377
Bronstein R., Capowski E.E., Mehrotra S., Jansen A.D., Navarro-Gomez D., Maher M., Place E.M., Sangermano R., Bujakowska K.M., Gamm D.M., Pierce E.A.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Hum. Mol. Genet. 29:967-979(2020)