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The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis by Sheri A. Poskanzer, Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong, Fan Yi, Irene J. Chang, Hans D. Ochs, Troy R. Torgerson, Si Houn Hahn
Published 2020-04-01
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P438: Clinical RNA sequencing to clarify variants of uncertain significance and identify missing variants by Jennifer Cech, Danny Miller, Cate Paschal, Bri Dingmann, Anna Scott, Jenny Thies, Maria Mills, J. Lawrence Merritt, II, Ghayda Mirzaa, James Bennett, Ian Glass, Darci Sternen, Heather Mefford
Published 2023-01-01
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