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. 2023 Jul 11;28(12):5380–5389. doi: 10.1038/s41380-023-02166-0

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — Blackened symbols represent AD patients, white symbols represent unaffected or at-risk individuals, gray symbol represents an individual with subjective cognitive decline and the striped symbol represents an individual with hearsay cognitive decline. The arrow indicates the proband. The number below the diamonds identifies individuals and on the left side of the pedigree represent generations. Patients IV:3, IV:4, IV:5 and III:4 are included in the WES discovery cohort. DNA was available from generation III (from III:1 to III:4 and from III:5 to III:8) and generation IV (from IV:1 to IV:7) who are depicted in the pedigree and from 7 individuals of generation V, censored from the pedigree as their current age is below the average onset age of the family. STR markers genotypes interspaced by the co-segregating variants and phased haplotypes are reported per individual. Disease haplotype is in light blue. Below the haplotype, APOE genotype is reported and clinico(-pathological) diagnosis.