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Consensus Reporting Guidelines to Address Gaps in Descriptions of Ultra-Rare Genetic Conditions

Ali Almail,Ahmed Jamjoom,Amy Pan,Min Yi Feng,Vann Chau,Alissa M. D'Gama,Katherine Howell,Nicole S. Y. Liang,Amy Mctague,Annapurna Poduri,Kimberly Wiltrout,Anne S. Bassett,John Christodoulou,Lucie Dupuis,Peter Gill,Tess Levy,Paige Siper,Zornitza Stark,Jacob A. S. Vorstman,Catherine Diskin,Natalie Jewitt,Danielle Baribeau,Gregory Costain

NPJ GENOMIC MEDICINE（2024）

Cited 2|Views38
Key words
Phenotype Analysis,Genetic Testing
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