Associated Papers
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families.
Ayyıldız Civan H et al.
Children (basel, Switzerland), 2021
NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.
Esposito MV et al.
Diagnostics (basel, Switzerland), 2021
33567694 (PubMed )
Supplement: diagnostics-11-00262-s001.zip › diagnostics-1100279-supplementary › Supplementary_tables › New_Supplemental_Table_3.docx
Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.
Carlo MI et al.
Jama Oncology, 2018
Genetic analysis of Italian patients with congenital tufting enteropathy.
d'Apolito M et al.
World Journal of Pediatrics : Wjp, 2016
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