Associated Papers
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Castilla-Vallmanya L et al.
International Journal of Molecular Sciences, 2021
33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table2_Patient_2_Variants.xlsx › Hoja1
Novel homozygous variant in WISP3 in a family with unrecognized progressive pseudorheumatoid dysplasia.
Patel C et al.
Clinical Case Reports, 2020
32884773 (PubMed )
Supplement: CCR3-8-1452-s003.xlsx › Sheet1
APOBEC Mutagenesis and Copy-Number Alterations Are Drivers of Proteogenomic Tumor Evolution and Heterogeneity in Metastatic Thoracic Tumors.
Roper N et al.
Cell Reports, 2019
30840888 (PubMed )
Supplement: NIHMS1523294-supplement-6.xlsx › RA003_P
Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.
Cavaillé M et al.
Frontiers in Genetics, 2018
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-AN-A049-01A.domain
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