Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.I981V
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MSH6

NM_000179.3:p.I981V

Associated Papers

Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Rocca V et al.

Current Issues in Molecular Biology, 2024

39590369 (PubMed )
Supplement: cimb-46-00775-s001.zip › cimb-3298387-supplementary.pdf

Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Paduano F et al.

Genes, 2022

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TP_Mutations

Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.

Liccardo R et al.

International Journal of Molecular Sciences, 2017

Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Ashktorab H et al.

Oncotarget, 2017

28002797 (PubMed )
Supplement: oncotarget-08-7852-s002.xlsx › MSH6.Ion

Novel Implications in Molecular Diagnosis of Lynch Syndrome.

Liccardo R et al.

Gastroenterology Research and Practice, 2017

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