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. 2024 Oct 31;11(11):2998–3009. doi: 10.1002/acn3.52212

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© 2024 The Author(s). Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

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Identification of the founder haplotype. Haplotype analysis of 14 SNP markers flanking the NEU1 gene in 18 pedigrees harboring the NEU1 c.544A>G (chr6:31829036) homozygous mutation (in orange) showed the 0.97 Mb core haplotype between rs9394023 and rs1048709 (except for Fam‐I‐4). The linked haplotype is labeled with blue and genotypes that could be fully phased are shown in red. Fourteen SNPs are showed in forward orientation. Allele frequencies of SNPs in East Asian population from gnomAD V2.1.1 (include only Genomes) were shown. Genomic locations are from the Genome Reference Consortium Human Build 37.