# A novel loss-of-function mutation in MCMDC2 is associated with male infertility

**Authors:** Ori Cohen, Florence Abou, Netanel Waldenberg, Moran Gershoni, Sandra E. Kleiman, Ruti Parvari, Shlomi Barak

PMC · DOI: 10.1038/s41439-026-00342-6 · Human Genome Variation · 2026-03-12

## Full-text entities

- **Genes:** MCMDC2 (minichromosome maintenance domain containing 2) [NCBI Gene 157777] {aka C8orf45}
- **Diseases:** male infertility (MESH:D007248)

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Source: https://tomesphere.com/paper/PMC12988226