Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
41458559 (PubMed )
Supplement: Table4.xlsx › sheet1
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx
Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.
Boujemaa M et al.
Frontiers in Genetics, 2024
38313678 (PubMed )
Supplement: Table1.xlsx › Table_S2
FANCM missense variants and breast cancer risk: a case-control association study of 75,156 European women.
Figlioli G et al.
European Journal of Human Genetics : Ejhg, 2023
36707629 (PubMed )
Supplement: 41431_2022_1257_MOESM2_ESM.xlsx › ST2
Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR genes.
Arias-Pérez RD et al.
Bmc Medical Genomics, 2021
34039366 (PubMed )
Supplement: 12920_2021_987_MOESM1_ESM.docx
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J et al.
Cancers, 2020
32235514 (PubMed )
Supplement: cancers-12-00829-s001.zip › cancers-727310-supplementary › Table_S3.xlsx › Supplementary_Table_3
Patterns and functional implications of rare germline variants across 12 cancer types.
Lu C et al.
Nature Communications, 2015
26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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