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BMJ Publishing Group, Journal of Medical Genetics, 11(52), p. 754-761, 2015

DOI: 10.1136/jmedgenet-2015-103069

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WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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