Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q346_T347Splc
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MLH1

NM_000249.4:p.Q346_T347Splc

Associated Papers

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM3_ESM.xlsx › Supp_Table_GL_MIS_vs_SOM

Prevalence and Genotype-Phenotype Correlation of Lynch Syndrome in a Selected High-Risk Cohort from Qatar's Population.

Sidenna M et al.

Genes, 2022

36421850 (PubMed )
Supplement: genes-13-02176-s001.zip › Table_S1.pdf
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