De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
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Brunet T, et al. Among authors: apitz c.
Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1.
Genet Med. 2024.
PMID: 37924258