Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Jama Ophthalmology
Shah, Mital M; Broadgate, Suzanne S; Shanks, Morag M; Clouston, Penny P; Yu, Jing J; MacLaren, Robert E RE; Németh, Andrea H AH; Halford, Stephanie S; Downes, Susan M SM
Publication Date: 2020-05-01
Variant appearance in text: BEST1: 900G>C; Glu300Asp
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
International Journal Of Molecular Sciences
Nachtigal, Anna-Lena AL; Milenkovic, Andrea A; Brandl, Caroline C; Schulz, Heidi L HL; Duerr, Lisa M J LMJ; Lang, Gabriele E GE; Reiff, Charlotte C; Herrmann, Philipp P; Kellner, Ulrich U; Weber, Bernhard H F BHF