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ArticlemedRxiv : the preprint server for health sciences2023

APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Logan C Walker et al.PubMed ↗Full text ↗Publisher ↗

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Full record →Abstract, authors, funding and every citing paper · PMID 36865205