Associated Papers
A rare haplotype of the GJD3 gene segregating in familial Meniere's disease interferes with connexin assembly.
Escalera-Balsera A et al.
Genome Medicine, 2025
Exome sequencing identifies novel genetic variants associated with varicose veins.
Zhang DD et al.
Plos Genetics, 2024
38980841 (PubMed )
Supplement: pgen.1011339.s009.xlsx › Sheet1
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.
Schlechter N et al.
Frontiers in Immunology, 2017
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