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P290: RNA and reclassification: Assessing RNA data in rare disease by Grace VanNoy, Jessica Gage, Jessica Grzybowski, Shoji Ichikawa, Emily Kudalkar, Catherine Schultz, Jesus Ramirez Castano, Brooklynn Gasser, Melissa Holman, Carolyn Horton, Kevin Lam, Melissa Samons, Marcy Richardson, Heather Zimmermann
Published 2025-01-01Get full text
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Updated ACMG/AMP specifications for variant interpretation and gene curations from the ClinGen RASopathy expert panels by Emma H. Wilcox, Ryan F. Webb, Kezang C. Tshering, Madeline Y. Hughes, Hélène Cavé, Marina T. DiStefano, Hannah Dziadzio, Kate Garber, Bruce D. Gelb, Karen W. Gripp, Shoji Ichikawa, Jennifer A. Lee, Hannah McCurry, Marco Tartaglia, Bradley Williams, Martin Zenker, Lisa M. Vincent, Heather Mason-Suares, Bradley Williams, Bruce Gelb, Hannah Dziadzio, Heather Mason-Suares, Hélène Cavé, Jennifer Lee, Karen Gripp, Kat Lafferty, Kezang Tshering, Lisa Vincent, Luis Enrique Gomez, Marco Tartaglia, Marina DiStefano, Martin Zenker, Reza Ahmadian, Ryan Webb, Shoji Ichikawa
Published 2025-01-01Get full text
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