Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.S966P
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MLH3

NM_001040108.2:p.S966P

Associated Papers

Somatic Mutations of Thymic Epithelial Tumors Identified in the Prospective THYMOGENE Trial.

Pardini E et al.

Thoracic Cancer, 2025

41405018 (PubMed )
Supplement: TCA-16-e70205-s001.xlsx › S4

Genetic variants underlying spermatogenic arrests in men with non-obstructive azoospermia.

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

Genomic instability and the link to infertility: A focus on microsatellites and genomic instability syndromes.

Wieland J et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2022

Germline mutational spectrum in Armenian breast cancer patients suspected of hereditary breast and ovarian cancer.

Moradian MM et al.

Human Genome Variation, 2021

33558524 (PubMed )
Supplement: 41439_2021_140_MOESM2_ESM.xlsx › Table_1

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

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › TSG

Genomics of lethal prostate cancer at diagnosis and castration resistance.

Mateo J et al.

The Journal of Clinical Investigation, 2020

31874108 (PubMed )
Supplement: jci-130-132031-s100.xlsx › Sheet1

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancer.

Liccardo R et al.

Cancer Management and Research, 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

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2

Coexistence of MLH3 germline variants in colon cancer patients belonging to families with Lynch syndrome-associated brain tumors.

Duraturo F et al.

Journal of Neuro-oncology, 2016

Impact of DNA mismatch repair system alterations on human fertility and related treatments.

Hu MH et al.

Journal of Zhejiang University. Science. B, 2016

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

Pashaiefar H et al.

Iranian Journal of Reproductive Medicine, 2013

Expression analysis of MLH3, MLH1, and MSH4 in maturation arrest.

Ferrás C et al.

Reproductive Sciences (thousand Oaks, Calif.), 2012

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

DNA mismatch repair gene hMLH3 variants in meiotic arrest.

Ferrás C et al.

Fertility and Sterility, 2007

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