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Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies
McInerney-Leo, A.M., Harris, J.E., Leo, P.J., Marshall, M.S., Gardiner, B., Kinning, E., Leong, H.Y., McKenzie, F., Ong, W.P., Vodopiutz, J., Wicking, C., Brown, M.A., Zankl, A., Duncan, E.L.Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12550
Date:
February, 2015
File:
PDF, 238 KB
english, 2015