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Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient
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Chen DY, Crawford JR
Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient