Associated Papers
Case Report: A Novel Pathomechanism in PEComa by the Loss of Heterozygosity of TP53.
Butz H et al.
Frontiers in Oncology, 2022
35419288 (PubMed )
Supplement: Table_1.xlsx › exome_variants_MAF_0.01
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.
Surendran P et al.
Nature Genetics, 2016
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-9.xlsx › S_Data_8
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