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.
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Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-8.xlsx › Table_S12
Performance Evaluation of SpliceAI for the Prediction of Splicing of NF1 Variants.
Ha C et al.
Genes, 2021
34573290 (PubMed )
Supplement: genes-12-01308-s001.zip › Table_S1.xlsx › NF1_Variants
Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.
Momozawa Y et al.
Nature Communications, 2018
30287823 (PubMed )
Supplement: 41467_2018_6581_MOESM5_ESM.xlsx › SD2
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