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Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X chromosome inactivation.
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10.1136/jmg.2006.045260
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Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Ravine, D., Evans, Julie Claire and Whatley, Sharon D.
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome.
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