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Undiagnosed Disease Network Collaborative Approach in Diagnosing Rare Disease in a Patient with a Mosaic CACNA1D Variant.

Kimberly M. Ezell,Rory J. Tinker,Yutaka Furuta,Alican Gulsevin,Lisa Bastarache,Rizwan Hamid,Joy D. Cogan,Lynette Rives,Serena Neumann, Brian Corner, Mary Kozuria,John A. Phillips

AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2024）

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关键词
CACNA1D,Mosaic,Undiagnosed Disease Network
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