Associated Papers
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
Sapio MR et al.
Plos One, 2015
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-A09R-01A.domain
Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.
Sapio MR et al.
The Journal of Biological Chemistry, 2012
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