Associated Papers
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
39945383 (PubMed )
Supplement: LIV-45-0-s005.xlsx › Table_2-2
Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.
Deng Z et al.
Nature Communications, 2023
37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original
Impact of natural neuromedin-B receptor variants on iron metabolism.
Rametta R et al.
American Journal of Hematology, 2020
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
29522511 (PubMed )
Supplement: pgen.1007246.s002.xlsx › Sheet1
KBG syndrome involving a single-nucleotide duplication in ANKRD11.
Kleyner R et al.
Cold Spring Harbor Molecular Case Studies, 2016
27900361 (PubMed )
Supplement: supp_mcs.a001131_Supp_File_4_Tables_1-3.zip › Supplementary_Table_1.xlsx › VAAST_results_38836_recessive.c
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP
Select a paper to view details