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
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus.
Lin Q et al.
Frontiers in Genetics, 2025
40201566 (PubMed )
Supplement: Table1.xlsx › family2
Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors.
Crowgey EL et al.
The Application of Clinical Genetics, 2020
Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.
Dufva O et al.
Nature Communications, 2018
29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L13
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