Associated Papers
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
rs67047829 genotypes of ERV3-1/ZNF117 are associated with lower body mass index in the Polish population.
Clark JSC et al.
Scientific Reports, 2023
37816715 (PubMed )
Supplement: 41598_2023_43323_MOESM1_ESM.xlsx › Sheet1
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1
Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type.
Wu J et al.
Frontiers in Genetics, 2022
35368703 (PubMed )
Supplement: DataSheet1.zip › 823861_SupMaterial › Data_Sheet_1.ZIP › raw_datas › patient_2__NGS_raw_data.xlsx › Sheet1
Prioritising positively selected variants in whole-genome sequencing data using FineMAV.
Wahyudi F et al.
Bmc Bioinformatics, 2021
34922440 (PubMed )
Supplement: 12859_2021_4506_MOESM2_ESM.xlsx › SSMP
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Stenson PD et al.
Human Genetics, 2020
The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.
Lim CH et al.
Oncotarget, 2016
27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5
Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.
Auer PL et al.
Nature Genetics, 2014
24777453 (PubMed )
Supplement: NIHMS581495-supplement-1.pdf
Human SNPs resulting in premature stop codons and protein truncation.
Savas S et al.
Human Genomics, 2006
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