Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E430*
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MLH1

NM_000249.4:p.E430*

Associated Papers

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Gallon R et al.

Npj Precision Oncology, 2024

38789506 (PubMed )
Supplement: 41698_2024_603_MOESM1_ESM.pdf

Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel MLH1 Mutation to Neoadjuvant Pembrolizumab.

Preti B et al.

Current Oncology (toronto, Ont.), 2023

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