Associated Papers
Pitfalls in identifying intronic germline pathogenic variants by comprehensive cancer genomic profiling: technical limitations or biased clinical/diagnostic utility?
De Bonis M et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2024
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
Diagnostic mRNA splicing assay for variants in BRCA1 and BRCA2 identified two novel pathogenic splicing aberrations.
Wangensteen T et al.
Hereditary Cancer in Clinical Practice, 2019
New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.
Kluska A et al.
Bmc Medical Genomics, 2015
25948282 (PubMed )
Supplement: 12920_2015_92_MOESM1_ESM.xlsx › Table_S1
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