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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
Main Authors: 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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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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1476-5438
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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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