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. 2020 Jul 12;267(12):3643–3649. doi: 10.1007/s00415-020-10059-3

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© The Author(s) 2020

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Fig. 2 — a Pathogenic mutations identified in UCLH1. b Consanguinity analysis through run of homozygosity (ROH) > 1 Mbp detection in autosomal chromosomes. c Conservation of the amino acid affected by the c.627_629del; p.(Gly210del) UCHL1 mutation