Associated Papers
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-10.xlsx › Table_S2
Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11.
Raponi M et al.
Plos One, 2012
22615956 (PubMed )
Supplement: pone.0037255.s004.xls › Sheet1
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