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1 case in 1kg-lrs data, which is especially important as EPM study used 1kg SRS in statistical tests
EPM study also had unaffected sister with 980 repeats. Mother with 131.
In DEE study "However, due to finding this abnormality in seemingly unaffected individuals, one control and one mother (Family 1) in our cohort and others[17], further work is required to determine whether variations in CSNK1E cause or contribute to the DEEs."