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P145: Paradigm Shift in Occam’s Razor and the Need for Genotype Driven Reverse Phenotyping in Rare Diseases with Complex Phenotypes*

Moon Ley Tung,Bharatendu Chandra,Jaime Nagy,Hatem El-Shanti,John Bernat,Nicole Safina,Amy Calhoun, Georgianne Younger,Kyle Dillahunt, Anna Paulson,Taylor Warner,Hannah Bombei,Jaclyn Kotlarek

Genetics in Medicine Open（2024）

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Key words
Exome Sequencing,Phenotype Analysis
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