Associated Papers
Characterization of a germline splice site variant MLH1 c.678-3T>A in a Lynch syndrome family.
Yang C et al.
Familial Cancer, 2020
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts BH et al.
American Journal of Human Genetics, 2018
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
Maccaroni E et al.
Oncotarget, 2015
Annotating the biomedical literature for the human variome.
Verspoor K et al.
Database : the Journal of Biological Databases and Curation, 2013
23584833 (PubMed )
Supplement: supp_bat019_SupplementaryFile1_VariomeAnnotationSchema_Guidelines_v1.1.docx
An intronic mutation in MLH1 associated with familial colon and breast cancer.
Bianchi F et al.
Familial Cancer, 2011
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