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142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile.

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Bibliographic Details
Title: 142PPhenotypical and genotypical characterization of a cohort of 196 COL6-RD patients in Europe and Chile.
Authors: Bisciglia, M.1 (AUTHOR), Stojkovic, T.2 (AUTHOR), Metay, C.3 (AUTHOR), Allamand, V.4 (AUTHOR), Natera-de Benito, D.5 (AUTHOR), Nascimento, A.5 (AUTHOR), Claeys, K.6 (AUTHOR), Castiglioni, C.7 (AUTHOR), Suarez, B.7 (AUTHOR), Vissing, J.8 (AUTHOR), De Paepe, B.9 (AUTHOR), De Bleecker, J.9 (AUTHOR), Lieveke, A.10 (AUTHOR), Butterfield, R.11 (AUTHOR), Deconinck, N.9,12 (AUTHOR)
Source: Neuromuscular Disorders. 2025 Supplement, Vol. 53, pN.PAG-N.PAG. 1p.
Database: Academic Search Ultimate
Description
ISSN:09608966
DOI:10.1016/j.nmd.2025.105689