Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.S685F
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MLH1

NM_000249.4:p.S685F

Associated Papers

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

Mechanisms and therapeutic implications of hypermutation in gliomas.

Touat M et al.

Nature, 2020

32322066 (PubMed )
Supplement: NIHMS1572083-supplement-1572083_Sup_Tab_4.xlsx › Sheet1

Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome Pedigree.

Zaib T et al.

Disease Markers, 2020

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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