Article

Molecular map of GNAO1-related disease phenotypes and reactions to therapy

2017-12-11

Abstract excerpt

The GNAO1 gene codes for the most commonly expressed G α protein in the central nervous system. Pathogenic GNAO1 variants result in early-onset neurological phenotypes, sometimes with distinct epilepsy or movement disorder, and sometimes with both mani-festations in the same patient. The existing extensive knowledge about G-protein coupled receptor (GPCR) signaling provides the input needed to describe quantitati...

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Literature Corpus work: b665dbf1-219e-574c-b23f-864a4265abb7
DOI: 10.1101/232058

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