Associated Papers
A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.
Gao F et al.
Genome Research, 2020
32817165 (PubMed )
Supplement: supp_gr.249599.119_Supplementary_Table_S10.xlsx › DNMs_in_discovery_set
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Mittempergher L et al.
Plos One, 2020
32639993 (PubMed )
Supplement: pone.0235766.s008.xlsx › Table_S2B__all_genes_
From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.
Quinn EA et al.
Cold Spring Harbor Molecular Case Studies, 2019
30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar
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