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Q55099707-7386642E-0892-4C1D-BB92-915513C1EDFD
Q55099707-7386642E-0892-4C1D-BB92-915513C1EDFD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55099707-7386642E-0892-4C1D-BB92-915513C1EDFD
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
P2860
Q55099707-7386642E-0892-4C1D-BB92-915513C1EDFD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q55099707-7386642E-0892-4C1D-BB92-915513C1EDFD
rank
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wasDerivedFrom
471290da6979ad316402a7d27c77b04331193b9c
P2860
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.