Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_ABE_Screen
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
39357517 (PubMed )
Supplement: mmc2.xlsx › c_Pred-data
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
38424437 (PubMed )
Supplement: 41467_2024_45975_MOESM4_ESM.xlsx › Supplementary_Data_5
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Newman S et al.
Cancer Discovery, 2021
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
31613886 (PubMed )
Supplement: pcbi.1007453.s002.xlsx › SoftVsPanel
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
30102335 (PubMed )
Supplement: bioinformatics_35_5_865_s4.xlsx › SupplTable2
Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.
Rummel SK et al.
Breast Cancer Research and Treatment, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
28152038 (PubMed )
Supplement: pone.0170843.s003.xlsx › S3_Table
Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?
Minde DP et al.
Molecular Cancer, 2011
21859464 (PubMed )
Supplement: 1476-4598-10-101-S1.DOC
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.
Azzopardi D et al.
Cancer Research, 2008
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