Verification of the GNAI1 gene pathogenic variant (NM_002069.6:c.815A>G)
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Data analysis from WES led to the identification of the <i>GNAI1 </i>gene sequence variant, NM_002069.6:c.815A>G, p.(Asp272Gly). This variant was detected in heterozygous state in probands, but not in their parents. These results were confirmed by Sanger sequencing.
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2021-04-12
