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P306: MedGen: An integrated and comprehensive resource for medical genetics concepts and concept-associated information by Adriana Malheiro, Thilakam Venkatapathi, Megan Kane, Douglas Hoffman, Baoshan Gu, Shanmuga Chitipiralla, Lora Ziyabari, Zenith Maddipatla, Wonhee Jang, Brandi Kattman, Kuljeet Kaur
Published 2025-01-01Get full text
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P729: Improved display and search of tests in the NIH Genetic Testing Registry (GTR) by Adriana Malheiro, Shanmuga Chitipiralla, Baoshan Gu, Marilu Hoeppner, Douglas Hoffman, Wonhee Jang, Zenith Maddipatla, Megan Kane, Kuljeet Kaur, Guangfeng Song, Thilakam Venkatapathi, Jinpeng Yang, George Zhou, Lora Ziyabari, Brandi Kattman
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P630: ClinGen curation of ClinVar: Improving a critical community resource* by Heidi Rehm, Julie Ratliff, Pamela Robertson, Danielle Azzariti, Larry Babb, Anabella Popiel, Audrey O’Neill, Vanessa Gitau, Ryan Webb, Eric Coleman, Kyle Ferriter, Terry O’Neill, Kuljeet Kaur, Shanmuga Chitipiralla, Chao Chen, Baoshan Gu, Jinpeng Yang, Steven Harrison, Erin Riggs, Marina DiStefano, Melissa Landrum
Published 2025-01-01Get full text
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