Associated Papers
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Supplement: mmc4.xlsx › Clinvar_BRCA1
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
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Breast cancer risks associated with missense variants in breast cancer susceptibility genes.
Dorling L et al.
Genome Medicine, 2022
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Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S15
Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.
Billaud A et al.
Genome Medicine, 2021
34749799 (PubMed )
Supplement: 13073_2021_976_MOESM1_ESM.pdf
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
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Genome Biology, 2014
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Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
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