177 ClinGen Framework for PIK3CD Variant Classification: Use of Adapted ACMG/AMP Guidelines

Alejandro Nieto-Patlán, Lindsay Worley,William Hankey, Kyle Hilliard, Justine Siew, Lijun Wang,Bertrand Boisson, Jes Maimaris, Charlotte Cunningham-Rundles, Michael Jordan,Cindy Ma,Xiao Peng,Heather McLaughlin,Menno van Zelm,Carrie Lucas,Janet Markle, Anne Puel,Amber Begtrup

Clinical Immunology(2024)

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关键词
PIK3CD,APDS,Variant classification,ClinGen
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