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
Super multiple primary lung cancers harbor high-frequency BRAF and low-frequency EGFR mutations in the MAPK pathway.
Li H et al.
Npj Precision Oncology, 2024
39384982 (PubMed )
Supplement: 41698_2024_726_MOESM1_ESM.pdf
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.
Zhang L et al.
Journal of Human Genetics, 2024
A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods.
Oh RY et al.
Hgg Advances, 2024
38659227 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Select a paper to view details