Associated Papers
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge
Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia.
Yuan W et al.
Frontiers in Oncology, 2023
36998465 (PubMed )
Supplement: Table_1.xlsx › 2._germline_mutations_in_case1
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
Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.
Qin Z et al.
Frontiers in Genetics, 2020
32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_5
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