Associated Papers
Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor.
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Signal Transduction and Targeted Therapy, 2025
40931016 (PubMed )
Supplement: 41392_2025_2380_MOESM1_ESM.docx
Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma.
Kwon S et al.
Scientific Reports, 2024
38902320 (PubMed )
Supplement: 41598_2024_64901_MOESM1_ESM.xlsx › SCC
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10487.xls › SNVIndel
Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.
Wang Y et al.
Translational Vision Science & Technology, 2023
36735267 (PubMed )
Supplement: tvst-12-2-4_s001.xls › S1-SNVs
Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.
Aspit L et al.
Journal of Pediatric Genetics, 2022
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s2.xlsx › UH6T2
Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.
Reimann E et al.
Human Genomics, 2014
25496518 (PubMed )
Supplement: 40246_2014_20_MOESM2_ESM.xlsx › Sheet1
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