Arteriohepatic dysplasia due to a notch2 point mutation

A change in the nucleotide sequence of the NOTCH2 gene that that results in constitutive activation of both neurogenic locus notch homolog protein 2 and its downstream signaling pathways.

Disease Alternative Name

activating hn2 gene mutation
activating notch2 gene mutation
activating ags2 gene mutation
activating notch homolog 2 gene mutation
activating notch (drosophila) homolog 2 gene mutation
activating notch2 mutation
notch2 activating gene mutation
activating notch 2 gene mutation
activating hjcys gene mutation
notch2 activating mutation
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