Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.I708N
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MLH1

NM_000249.4:p.I708N

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

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

Pagenstecher C et al.

Human Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."