• 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
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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
Revital Bronstein, Elizabeth E. Capowski, Sudeep Mehrotra, Alex D. Jansen, Daniel Navarro-Gomez, Mathew Maher, Emily Margaret Place, Riccardo Sangermano, Kinga M. Bujakowska, David Matthew Gamm, Eric A. Pierce;
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)