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
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Whole-exome sequencing identifies somatic mutations and intratumor heterogeneity in inflammatory breast cancer.
Luo R et al.
Npj Breast Cancer, 2021
34075047 (PubMed )
Supplement: 41523_2021_278_MOESM2_ESM.xlsx › Supplementary_Data_1
Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.
Lu S et al.
Theranostics, 2021
33456573 (PubMed )
Supplement: thnov11p2788s1.pdf
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
A glioneuronal tumor with CLIP2-MET fusion.
Chowdhury T et al.
Npj Genomic Medicine, 2020
32550005 (PubMed )
Supplement: 41525_2020_131_MOESM2_ESM.xlsx › Mutation__exonic_splicing_
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1
Tumor mutation burden and recurrent tumors in hereditary lung cancer.
Hsu YC et al.
Cancer Medicine, 2019
30941903 (PubMed )
Supplement: CAM4-8-2179-s001.xlsx › S2
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › variants_in_all_cases
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