Associated Papers
C to U RNA editing of MFN1 is regulated by ADARB1 and associates with favourable prognosis in chronic lymphocytic leukemia.
Gonzalez Martinez A et al.
Scientific Reports, 2025
40813454 (PubMed )
Supplement: 41598_2025_15666_MOESM2_ESM.xlsx › Tabelle1
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
Evolutionary history of adenomas to colorectal cancer in FAP families.
Yang C et al.
Frontiers in Genetics, 2024
39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R10492.xls › SNVIndel
Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.
Ganesamoorthy D et al.
Bmc Cancer, 2022
35057759 (PubMed )
Supplement: 12885_2021_9160_MOESM1_ESM.xlsx › 1249_P0
Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.
Lei P et al.
Plos One, 2022
36350814 (PubMed )
Supplement: pone.0276233.s004.xlsx › RawData
PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.
Pignochino Y et al.
Cancers, 2021
Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.
Byron SA et al.
Cancer Research, 2021
Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.
Kim M et al.
Endocrinology and Metabolism (seoul, Korea), 2021
34731936 (PubMed )
Supplement: enm-2021-1132-suppl2.pdf
Case Report: Exome sequencing reveals recurrent RETSAT mutations and a loss-of-function POLDIP2 mutation in a rare undifferentiated tongue sarcoma.
Chan JYK et al.
F1000research, 2018
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
Select a paper to view details