Associated Papers
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
Clinical and genomic features of non-small cell lung cancer occurring in families.
Miyabe S et al.
Thoracic Cancer, 2023
36869602 (PubMed )
Supplement: TCA-14-940-s001.xlsx › suppl.table3
First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.
Wang Y et al.
Bmc Medical Genomics, 2022
35717189 (PubMed )
Supplement: 12920_2022_1285_MOESM2_ESM.xlsx › Sheet1
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
Wakil SM et al.
Bmc Medical Genetics, 2019
Identification of Two Mutations in PCDHGA4 and SLFN14 Genes in an Atrial Septal Defect Family.
Su W et al.
Current Medical Science, 2018
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
Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
Disciglio V et al.
Chinese Journal of Cancer, 2016
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