Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
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DOI: 10.1136/jmedgenet-2020-107462
Abstract: Purpose Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2… read more here.
Keywords: missense variants; intellectual disability; novo missense; variants gnb2 ... See more keywords