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Andrew Glazer
amglazer.bsky.social
did:plc:64zb4qduh45il2uqglloyhxe
Out of 252 variants, 146 were functionally abnormal (Z ≤ -2), with 100 showing severe loss-of-function (Z ≤ -4). Functional evidence allowed us to reclassify 110 of 225 VUS: 104 to likely pathogenic and 6 to likely benign. [4/7]
2025-03-20T01:53:39.509Z