Associated Papers
Unlocking the Door for Precision Medicine in Rare Conditions: Structural and Functional Consequences of Missense ACVR1 Variants.
Nagar G et al.
Omics : a Journal of Integrative Biology, 2024
39288033 (PubMed )
Supplement: sj-pdf-1-omi-10.1089_omi.2024.0140.pdf
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
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-A06P-01A.domain
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