Associated Papers
Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.
Huang CY et al.
Bmc Cancer, 2025
41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4
A Novel Homozygous Variant in CPLANE1 Gene in a Patient with Developmental Deficits.
Shankarappa B et al.
Molecular Syndromology, 2025
High Incidence of CPLANE1-Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses
Bozhinovski G et al.
Balkan Medical Journal, 2024
Novel variants identified in five Chinese families with Joubert Syndrome: a case report.
Fang L et al.
Bmc Medical Genomics, 2023
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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