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. Author manuscript; available in PMC: 2021 Nov 23.
Published in final edited form as: Mol Genet Metab. 2019 Sep 12;128(4):463–469. doi: 10.1016/j.ymgme.2019.09.002

Table 3.

PKAN disease incidence based on known and predicted pathogenic variants
MODEL EUR FIN AFR LAT EAS SAS
Literature 825,974 2,804,955 5,423,073 619,935 1,181,521 6,509,160
Literature + g-LOF 534,440 1,708,905 1,996,795 567,126 641,618 1,005,929
Literature + g-LOF + g-missense 396,006 1,708,905 1,526,982 480,826 523,551 531,118