Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.N826D
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MLH3

NM_001040108.2:p.N826D

Associated Papers

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.

Orzan F et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36648487 (PubMed )
Supplement: ccr-22-2903_supplementary_data_2_suppds2.xlsx › Variants_identidied_in_Cohort1

Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.

Mendogni P et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2022

36517829 (PubMed )
Supplement: 13046_2022_2554_MOESM1_ESM.xlsx › Table_S3

MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.

Zhang XW et al.

World Journal of Clinical Cases, 2022

Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.

Liccardo R et al.

International Journal of Molecular Medicine, 2022

Cellular and genetic drivers of RNA editing variation in the human brain.

Cuddleston WH et al.

Nature Communications, 2022

35637184 (PubMed )
Supplement: 41467_2022_30531_MOESM8_ESM.xlsx › Putative_novel_recoding_events

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

33441310 (PubMed )
Supplement: can-20-2222_supplemental_st1-st14_suppst1-st14.xlsx › S3

DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

Caja F et al.

International Journal of Molecular Sciences, 2020

32756484 (PubMed )
Supplement: ijms-21-05561-s001.zip › SNP_2.0_final.xls › MLH3

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s001.xlsx › Supp_Table1._Germline_mutations

Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Yang H et al.

Therapeutic Advances in Medical Oncology, 2020

PMS2 germline mutation c.1577delA (p.Asp526Alafs*69)-induced Lynch syndrome-associated endometrial cancer: A case report.

Cui MH et al.

Medicine, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s8.xls › Germline_true_positive

Germline mutation in the TP53 gene in uveal melanoma.

Hajkova N et al.

Scientific Reports, 2018

29769598 (PubMed )
Supplement: 41598_2018_26040_MOESM2_ESM.xlsx › Supplementary_Table_S1

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.

Sun Y et al.

The Canadian Journal of Cardiology, 2015

Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Lam DC et al.

Oncotargets and Therapy, 2015

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Liu J et al.

Nature Communications, 2014

24807215 (PubMed )
Supplement: ncomms4830-s7.xls › S6-MMR_mutations

Analysis of MLH3 C2531T polymorphism in Iranian women with unexplained infertility.

Pashaiefar H et al.

Iranian Journal of Reproductive Medicine, 2013

The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia.

Xu K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010

MLH3 mutation in endometrial cancer.

Taylor NP et al.

Cancer Research, 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."