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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19.
Am J Hum Genet. 2021.
PMID: 34800363
Free PMC article.
CRISPR/Cas9-mediated tissue-specific knockout and cDNA rescue using sgRNAs that target exon-intron junctions in Drosophila melanogaster.
Chilian M, Vargas Parra K, Sandoval A, Ramirez J, Yoon WH.
Chilian M, et al. Among authors: vargas parra k.
STAR Protoc. 2022 Jun 14;3(3):101465. doi: 10.1016/j.xpro.2022.101465. eCollection 2022 Sep 16.
STAR Protoc. 2022.
PMID: 35719725
Free PMC article.
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