Associated Papers
Generation of functional noncanonical donor splice sites by +2T variants in breast cancer susceptibility genes: impact on clinical interpretation.
Llinares-Burguet I et al.
The Journal of Pathology, 2026
Clinical relevance of somatic mutations in Chinese lung adenocarcinoma and their prognostic implications for survival.
Li T et al.
Cancer Medicine, 2024
38770632 (PubMed )
Supplement: CAM4-13-e7227-s001.xlsx › Table_S2
TP53 mutations predict for poor outcomes in patients with newly diagnosed aggressive B-cell lymphomas in the current era.
Landsburg DJ et al.
Blood Advances, 2023
37851898 (PubMed )
Supplement: BLOODA_ADV-2023-011384-mmc1.pdf
Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia.
Ren J et al.
Frontiers in Genetics, 2023
37056289 (PubMed )
Supplement: Table1.XLSX › Sheet1
Hepatomegaly and hyperammonemia in a girl with Silver-Russell syndrome caused by maternal uniparental isodisomy of chromosome 7.
Li CF et al.
American Journal of Medical Genetics. Part A, 2014
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
Nakamura K et al.
Human Mutation, 2012
Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences.
Teraoka SN et al.
American Journal of Human Genetics, 1999
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