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Data from electronic healthcare records expand our understanding of X‐linked genetic diseases

16 Jan 2024

Abstract excerpt

Disease specific cohort studies have reported details on X linked (XL) disorders affecting females. We investigated the spectrum and penetrance of XL disorders seen in electronic health records (EHR). We generated a cohort of individuals diagnosed with XL disorders at Vanderbilt University Medical Center over 20 years. Our cohort included 477 males and 203 females diagnosed with 108 different XL genetic...

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PMID: 38229216
DOI: 10.1002/ajmg.a.63527

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