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EJHG.2012.267
EJHG.2012.267
http://dx.doi.org/10.1038/EJHG.2012.267
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring.
P356
Q34317057-911172DF-A939-4947-AD80-54BED235250E
P356
EJHG.2012.267
http://dx.doi.org/10.1038/EJHG.2012.267