Associated Papers
The Promise of Exome Sequencing for the Differential Diagnosis of Late-Onset End-Stage Renal Disease in Turkish Cypriots.
Kazan HH et al.
Cureus, 2025
PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.
Raj A et al.
Computational and Structural Biotechnology Journal, 2024
38292474 (PubMed )
Supplement: mmc4.xlsx › HEK_DiseaseAnnotation
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations
Global view of the RAF-MEK-ERK module and its immediate downstream effectors.
Santini CC et al.
Scientific Reports, 2019
31350469 (PubMed )
Supplement: 41598_2019_47245_MOESM2_ESM.xlsx › TableS1.csv
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