Varaico: Literature-Extracted Genetic Variants

Gene:MLH3
Variant:p.D206fs
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MLH3

NM_001040108.2:p.D206fs

Associated Papers

The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility: a systematic review and cohort study.

Podgrajsek R et al.

Reproductive Biology and Endocrinology : Rb&e, 2025

A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and Polyps.

Johannesen KM et al.

Clinical Genetics, 2025

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

Ozturk S

Cell Cycle (georgetown, Tex.), 2023

A loss-of-function variant in DNA mismatch repair gene MLH3 underlies severe oligozoospermia.

Nawaz S et al.

Journal of Human Genetics, 2021

Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.

Chen S et al.

Human Molecular Genetics, 2020

How should we correctly interpret biallelic germline truncating variant of MLH3 in hereditary colorectal cancer?

Yang M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."