Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Abid A et al.
Clinical Genetics, 2023
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns.
Bastarache L et al.
Science (new York, N.y.), 2018
Folding Defects Leading to Primary Hyperoxaluria.
Oppici E et al.
Handbook of Experimental Pharmacology, 2018
The lower limits for protein stability and foldability in primary hyperoxaluria type I.
Mesa-Torres N et al.
Biochimica Et Biophysica Acta, 2014
The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I.
Mesa-Torres N et al.
Plos One, 2013
Select a paper to view details