Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.D72G
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MLH1

NM_000249.4:p.D72G

Associated Papers

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Tam B et al.

International Journal of Molecular Sciences, 2024

38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY et al.

Science (new York, N.y.), 2015

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR et al.

Nucleic Acids Research, 2004

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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."