Research graph
References from aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1038/nrg.2016.49
10.1038/nrg.2016.49 · External reference
a pivotal year for diagnosis and treatment of rare genetic diseases
2022 · External reference
10.1038/gim.2015.30
10.1038/gim.2015.30 · External reference
10.1093/nar/gkaa942
10.1093/nar/gkaa942 · External reference
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
10.1093/nar/gkz411 · 2019 · External reference
10.1093/bioinformatics/bty897
10.1093/bioinformatics/bty897 · External reference
10.1093/nar/gkaa1100
10.1093/nar/gkaa1100 · External reference
10.1002/humu.21445
10.1002/humu.21445 · External reference
10.1371/journal.pone.0046688
10.1371/journal.pone.0046688 · External reference
10.1038/s41586-020-2308-7
10.1038/s41586-020-2308-7 · External reference
10.1186/s13073-020-00803-9
10.1186/s13073-020-00803-9 · External reference
ClinVar: public archive of relationships among sequence variation and human phenotype
10.1093/nar/gkt1113 · 2014 · External reference
10.1101/gr.229102
10.1101/gr.229102 · External reference
10.1186/s13059-016-0974-4
10.1186/s13059-016-0974-4 · External reference
10.1093/nar/gkq603
10.1093/nar/gkq603 · External reference
Unresolved reference
External reference
10.1038/s41586-022-04558-8
10.1038/s41586-022-04558-8 · External reference
10.1093/nar/gkx997
10.1093/nar/gkx997 · External reference
drawProteins: a Bioconductor/R package for reproducible and programmatic generation of protein schematics
10.12688/f1000research.14541.1 · 2018 · External reference
Unresolved reference
External reference
Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
10.1038/s41436-020-0904-4 · 2020 · External reference
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
2022 · External reference
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
10.1002/jimd.12412 · 2021 · External reference
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
10.1016/j.ymgme.2022.07.007 · 2022 · External reference
Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder
10.1002/humu.24245 · 2021 · External reference
10.1002/humu.21438
10.1002/humu.21438 · External reference
The human gene mutation database (HGMD((R))): optimizing its use in a clinical diagnostic or research setting
10.1007/s00439-020-02199-3 · 2020 · External reference
