Associated Papers
One Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3-Three Case Reports.
Vlad RM et al.
Reports (mdpi), 2025
Molecular Analysis of Biliary Tract Cancers with the Custom 3' RACE-Based NGS Panel.
Mitiushkina NV et al.
Diagnostics (basel, Switzerland), 2023
37891989 (PubMed )
Supplement: diagnostics-13-03168-s001.zip › diagnostics-2617903-supplementary.pdf
Defining pathogenicity of NOTCH2 variants for diagnosis of Alagille syndrome type 2 using a large cohort of patients.
Li ZD et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2022
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT et al.
Frontiers in Oncology, 2022
36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014
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