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franmartinezgr
franmartinezgr.bsky.social
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
#RareDisease
#Genetics
#BRCA1
#ACMG
www.cell.com/ajhg/fulltex...
Apr 15, 2025 14:51
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