Associated Papers
Prevalence of germline variants in Brazilian pancreatic carcinoma patients.
Rodrigues LM et al.
Scientific Reports, 2024
39256447 (PubMed )
Supplement: 41598_2024_71884_MOESM1_ESM.docx
Identifying novel oncogenic RET mutations and characterising their sensitivity to RET-specific inhibitors.
Zhao Z et al.
Journal of Medical Genetics, 2020
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.
Toledo RA et al.
Endocrine-related Cancer, 2015
25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1
Comprehensive analysis of RET common and rare variants in a series of Spanish Hirschsprung patients confirms a synergistic effect of both kinds of events.
Núñez-Torres R et al.
Bmc Medical Genetics, 2011
Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.
Ruiz-Ferrer M et al.
Plos One, 2011
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Gu YH et al.
Clinical Genetics, 2003
Haplotype and mutation analysis in Japanese patients with Wilson disease.
Nanji MS et al.
American Journal of Human Genetics, 1997
Select a paper to view details