Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.
Millo T, Rivera A, Obolensky A, Marks-Ohana D, Xu M, Li Y, Wilhelm E, Gopalakrishnan P, Gross M, Rosin B, Hanany M, Webster A, Tracewska AM, Koenekoop RK, Chen R, Arno G, Schueler-Furman O, Roosing S, Banin E, Sharon D.
Millo T, et al.
Genet Med. 2022 Jul;24(7):1523-1535. doi: 10.1016/j.gim.2022.03.020. Epub 2022 Apr 29.
Genet Med. 2022.
PMID: 35486108
Free article.
RESULTS: Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD samples revealed homozygous pathogenic variants in 6 SLC genes, including 2 candidate novel genes, which were 2 variants in SLC66A1, causing autosomal recessive retinitis pigmentosa (ARRP), and a …
RESULTS: Comprehensive analysis of 433 SLC genes in 913 exome sequencing IRD samples revealed homozygous pathogenic variants in 6 SLC genes, …