Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R497insFs
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MLH1

NM_000249.4:p.R497insFs

Associated Papers

Some aspects of molecular diagnostics in Lynch syndrome.

Kurzawski G

Hereditary Cancer in Clinical Practice, 2006

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G et al.

Clinical Genetics, 2006

Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.

Mueller-Koch Y et al.

Gut, 2005

Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.

Mangold E et al.

The Journal of Pathology, 2005

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.

Mangold E et al.

International Journal of Cancer, 2005

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Casey G et al.

Jama, 2005

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

Kurzawski G et al.

Journal of Medical Genetics, 2002

Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatography.

Kurzawski G et al.

Journal of Biochemical and Biophysical Methods, 2002

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