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. 2023 Feb 13;2(3):pgad043. doi: 10.1093/pnasnexus/pgad043

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© The Author(s) 2023. Published by Oxford University Press on behalf of National Academy of Sciences.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

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Fig. 2. — Prevalence of the mutations detected. Individual slices of the chart refer to specific variants, with the exception of mutations occurring only once (private) or twice, which were grouped. n refers to the total number of alleles identified in a given group. Percentages are computed over the total number of causative alleles detected in patients from the solved and likely solved classes, regardless of the inheritance mode of the disease. The correct HGVS nomenclature for “EYS exon 13-14 del” is EYS c.2024-5718_2260-10064del and for “CFAP410 c.33_34ins16” is CFAP410 c.33_34insAGCTGCACAGCGTGCA; a simplified notation was used here because of space constraints.