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
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
Ivanoshchuk D et al.
Journal of Personalized Medicine, 2023
36836406 (PubMed )
Supplement: jpm-13-00172-s001.zip › jpm-2120690-supplementary.pdf
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S13.xls › human_pat_mouse_phe_orthovar_14
The Mutation Spectrum of Maturity Onset Diabetes of the Young (MODY)-Associated Genes among Western Siberia Patients.
Ivanoshchuk DE et al.
Journal of Personalized Medicine, 2021
Glucokinase gene mutations (MODY 2) in Asian Indians.
Kanthimathi S et al.
Diabetes Technology & Therapeutics, 2014
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).
George DC et al.
Theranostics, 2014
24578721 (PubMed )
Supplement: thnov04p0366s1.pdf
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