Katrine M Johannesen
@katrine92658231
MD and PostDoc. training to be a clinical geneticist. Mother of three humans and most comfortable in rubberboots. Words and opinions are my own.
ID: 1234511247426674695
02-03-2020 16:10:04
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#timeisbrain - in SCNxA channels the genes are paralogs, enabling us to look at variants across all genes. A variant characterized as LOF in #SCN1A is also LOF in #SCN2A and #SCN8A Very relevant as functional testing is not clinically available. By brilliant Andreas Brunklaus
