Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S3
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
33906374 (PubMed )
Supplement: JAH3-10-e017731-s001.xlsx › Supplemental_Table_S4a
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.
Perrot A et al.
Archives of Medical Science : Ams, 2016
Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.
Chen J et al.
Plos One, 2016
27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-BH-A0E7-01A.domain
Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy.
Arimura T et al.
Human Genetics, 2000
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