Associated Papers
IFNAR2 p.F8S Variant Associates with Severe COVID-19 and Adaptive Immune Cell Activation Modulation.
Malvestiti F et al.
International Journal of Molecular Sciences, 2026
41596638 (PubMed )
Supplement: ijms-27-00992-s001.zip › Malvestiti_et_al.__Supplementary_Table__y.xlsx › Table_S1
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Significant variants of type 2 diabetes in the Arabian Region through an Integration of exome databases.
Goto K et al.
Plos One, 2021
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Abelson S et al.
Science Advances, 2020
33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab1
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing.
Petti AA et al.
Nature Communications, 2019
31413257 (PubMed )
Supplement: 41467_2019_11591_MOESM3_ESM.xlsx › CompiledVariantData
Association of genetic variants in INS (rs689), INSR (rs1799816) and PP1G.G (rs1799999) with type 2 diabetes (T2D): a case-control study in three ethnic groups from North-West India.
Sokhi J et al.
Molecular Genetics and Genomics : Mgg, 2016
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
Exome sequencing of only seven Qataris identifies potentially deleterious variants in the Qatari population.
Rodriguez-Flores JL et al.
Plos One, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Obesity modifies the effects of the Asp905Tyr variant of PPP1R3A on risk of type 2 diabetes and insulin sensitivity.
Mammarella S et al.
Diabetes, Obesity & Metabolism, 2007
Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
Barroso I et al.
Plos Biology, 2003
Digenic inheritance of severe insulin resistance in a human pedigree.
Savage DB et al.
Nature Genetics, 2002
Adenovirus-mediated expression of a naturally occurring Asp905Tyr variant of the glycogen-associated regulatory subunit of protein phosphatase-1 in L6 myotubes.
Rasmussen SK et al.
Diabetologia, 2000
Polymorphism in the glycogen-associated regulatory subunit of type 1 protein phosphatase (PPP1R3) gene and insulin sensitivity.
Hansen L et al.
Diabetes, 2000
Effect of an Asp905Tyr mutation of the glycogen-associated regulatory subunit of protein phosphatase-1 on the regulation of glycogen synthesis by insulin and cyclic adenosine 3',5'-monophosphate agonists.
Ragolia L et al.
Molecular Endocrinology (baltimore, Md.), 1999
A common variant in PPP1R3 associated with insulin resistance and type 2 diabetes.
Xia J et al.
Diabetes, 1998
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