Associated Papers
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow DB et al.
Cold Spring Harbor Molecular Case Studies, 2017
28050602 (PubMed )
Supplement: supp_mcs.a001388_TableS1.xls › Clinical_Clinvar
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-A8-A06Q-01A.domain
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