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CSNK1E pathogenic range appearing in unaffected individuals #494

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@gaberbz
  • 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."

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