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Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation Methods

2021-08-03

Abstract excerpt

The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to test the clarity and accuracy of using the customized variant interpretation criteria. Multiple curat...

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Literature Corpus work
002cf7a4-d179-5b15-9317-46153230bf1b
DOI
10.22541/au.162799254.41524026/v1
Open publication

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Recommendations by the ClinGen Rett/Angelman-like Expert Panel for Gene-specific Variant Interpretation MethodsDOI 10.22541/au.162799254.41524026/v1
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