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A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B
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Published in: | European journal of human genetics : EJHG 2020, Vol.28 (SUPPL 1), p.366-367 |
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Main Authors: | , , , , , , , , , , , , , , , , , , |
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container_end_page | 367 |
container_issue | SUPPL 1 |
container_start_page | 366 |
container_title | European journal of human genetics : EJHG |
container_volume | 28 |
creator | Uguen, K. Ka, C. Planes, M. Audebert-Bellanger, S. Redon, S. Benech, C. Kury, S. Peudenier, S. Autret, S. Gourlaouen, I. Bonneau, D. Odent, S. Bezieau, S. Gilbert-Dussardier, B. Boland, A. Deleuze, J. Le Marechal, C. Le Gac, G. Ferec, C. |
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language | eng |
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source | PubMed Central (Open Access); Springer Link |
subjects | Life Sciences |
title | A new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B |
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