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CCM1

KRIT1, Krev interaction trapped 1

 
Locus: 7q11.2-q21

Pathology

-  mutations in the cerebral cavernous malformations type 1 (MIM.116860)
-  mutations in the hyperkeratotic cutaneosu capillary-venous malformations associated with cerebral capillary malformations (HCCVM) (MIM.116860)


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