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
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View.
Jang W et al.
International Journal of Genomics, 2022
36275637 (PubMed )
Supplement: 5265686.f1.docx
Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.
Bhaskaran SP et al.
International Journal of Cancer, 2019
30702160 (PubMed )
Supplement: IJC-145-962-s004.xlsx › BRCA1
Somatic mutations in early onset luminal breast cancer.
Encinas G et al.
Oncotarget, 2018
29854292 (PubMed )
Supplement: oncotarget-09-22460-s002.xlsx › Supplementary_Table2
Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.
Maistro S et al.
Bmc Cancer, 2016
27914478 (PubMed )
Supplement: 12885_2016_2966_MOESM1_ESM.zip › Additional_tables.xlsx › TableS2
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
Hondow HL et al.
Bmc Cancer, 2011
21702907 (PubMed )
Supplement: 1471-2407-11-265-S6.XLS › Sheet1
[Prevalence of Val158Met polymorphism in COMT gene on non-BRCA1/2 hereditary breast cancer].
Song CG et al.
Zhonghua Wai Ke Za Zhi [chinese Journal of Surgery], 2006
The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.
Song CG et al.
Journal of Cancer Research and Clinical Oncology, 2006
[BRCA1 and BRCA2 gene mutations of familial breast cancer from Shanghai in China].
Song CG et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
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