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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.
Olinger E, Wilson IJ, Orr S, Barroso-Gil M, Neatu R; Genomics England Research Consortium; Atan D, Sayer JA. Olinger E, et al. Genet Med Open. 2024 Feb 29;2:101834. doi: 10.1016/j.gimo.2024.101834. eCollection 2024. Genet Med Open. 2024. PMID: 39669628 Free PMC article.
508 results