WebSep 17, 2024 · In this conversation. Verified account Protected Tweets @; Suggested users WebJan 3, 2024 · In the current study, we demonstrated a case of GLI3 morphopathy attributed to a novel likely pathogenic variant by missense mutation at the PC domain (p.P719S) of GLI3 (variant was judged as likely pathogenic based on the criteria by American College of Medical Genetics and Genomics and the Association for Molecular Pathology, ACMG …
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