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P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports by Jeffrey Bissonnette, Betty Mathias, Melida Mahinic, Ana Gutalj, Rasema Bihorac Hrelja, Mirna Racic, Sabina Alagic, Ena Toman, Paty Romero, Jane Beckwell, Elizabeth Wiley, Kathryn Curry, Anna McGill, Amina Kozaric, Mark Kiel
Published 2025-01-01Get full text
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An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant by Eric L. Bell, Jennifer K. Truong, Youhwa Jo, Adrianne Kolpak, Lauren Chunn, Natalie Syverud, Melida Mahinic, Jessica R. Durrant, Eitan Hoch, Bharat Reddy, Patrick Stoiber, John P. Miller, Yong Ren, Jonathan Moore, Robert O. Hughes, Alastair S. Garfield
Published 2025-07-01Get full text
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