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Q55099707-37D46D34-DC0C-4023-99A2-0F84709D9E01
Q55099707-37D46D34-DC0C-4023-99A2-0F84709D9E01
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Statement
http://www.wikidata.org/entity/statement/Q55099707-37D46D34-DC0C-4023-99A2-0F84709D9E01
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
P2860
Q55099707-37D46D34-DC0C-4023-99A2-0F84709D9E01
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55099707-37D46D34-DC0C-4023-99A2-0F84709D9E01
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wasDerivedFrom
471290da6979ad316402a7d27c77b04331193b9c
P2860
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome