1. Olinger, Eric, Wilson, Ian J, Orr, Sarah, Atan, Denize, Sayer, John A. 2024. Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy. In Genetics in medicine open, 2, 101834. doi:10.1016/j.gimo.2024.101834. https://pubmed.ncbi.nlm.nih.gov/39669628/
2. Millo, Talya, Rivera, Antonio, Obolensky, Alexey, Banin, Eyal, Sharon, Dror. 2022. Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily. In Genetics in medicine : official journal of the American College of Medical Genetics, 24, 1523-1535. doi:10.1016/j.gim.2022.03.020. https://pubmed.ncbi.nlm.nih.gov/35486108/
3. Liu, Bin, Du, Hongwei, Rutkowski, Rachael, Gartner, Anton, Wang, Xiaochen. . LAAT-1 is the lysosomal lysine/arginine transporter that maintains amino acid homeostasis. In Science (New York, N.Y.), 337, 351-4. doi:10.1126/science.1220281. https://pubmed.ncbi.nlm.nih.gov/22822152/
4. Jézégou, Adrien, Llinares, Elisa, Anne, Christine, André, Bruno, Gasnier, Bruno. 2012. Heptahelical protein PQLC2 is a lysosomal cationic amino acid exporter underlying the action of cysteamine in cystinosis therapy. In Proceedings of the National Academy of Sciences of the United States of America, 109, E3434-43. doi:10.1073/pnas.1211198109. https://pubmed.ncbi.nlm.nih.gov/23169667/
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