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Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants.

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Title: Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants.
Authors: McCarty, Riley M.1 (AUTHOR), Saade, Dimah1,2 (AUTHOR), Munot, Pinki3 (AUTHOR), Laverty, Chamindra G.4 (AUTHOR), Pinz, Hailey5 (AUTHOR), Zou, Yaqun1 (AUTHOR), McAnally, Meghan1 (AUTHOR), Yun, Pomi1 (AUTHOR), Tian, Cuixia6 (AUTHOR), Hu, Ying1 (AUTHOR), Feng, Lucy3 (AUTHOR), Phadke, Rahul7 (AUTHOR), Ceulemans, Sophia8 (AUTHOR), Magoulas, Pilar9 (AUTHOR), Skalsky, Andrew J.10,11 (AUTHOR), Friedman, Jennifer R.4,12,13 (AUTHOR), Braddock, Stephen R.5 (AUTHOR), Neuhaus, Sarah B.1 (AUTHOR), Malicki, Denise M.14 (AUTHOR), Bainbridge, Matthew N.12 (AUTHOR)
Source: Annals of Clinical & Translational Neurology. Mar2025, Vol. 12 Issue 3, p602-614. 13p.
Database: Academic Search Ultimate
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ISSN:23289503
DOI:10.1002/acn3.52225