A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene
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DOI: 10.1186/s13023-022-02252-6
Abstract: Background GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in… read more here.
Keywords: heterozygous missense; gnas gene; function; gene ... See more keywords