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sj.ejhg.5201228
sj.ejhg.5201228
https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201228
1024C> T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
P2888
Q44969265-91A31822-4BC0-4968-8D8A-46BBF4D84286
P2888
sj.ejhg.5201228
https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201228