Associated Papers
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS15
Contrasting Effects of Cancer-Associated Mutations in EphA3 and EphB2 Kinases.
Kim Y et al.
Biochemistry, 2024
Genetic Predisposition to Numerous Large Ulcerating Basal Cell Carcinomas and Response to Immune Therapy.
Dasgeb B et al.
International Journal of Dermatology and Venereology, 2021
Common germline-somatic variant interactions in advanced urothelial cancer.
Vosoughi A et al.
Nature Communications, 2020
33273457 (PubMed )
Supplement: 41467_2020_19971_MOESM14_ESM.xlsx › Suppl._Data_12a
Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.
Li C et al.
Genes, 2020
32824926 (PubMed )
Supplement: genes-11-00953-s001.zip › Table_S4.xlsx › Sheet1
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
Germline EPHB2 receptor variants in familial colorectal cancer.
Zogopoulos G et al.
Plos One, 2008
Nonsense-mediated decay microarray analysis identifies mutations of EPHB2 in human prostate cancer.
Huusko P et al.
Nature Genetics, 2004
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