Varaico: Literature-Extracted Genetic Variants

Gene:REC114
Variant:p.Q190*
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REC114

NM_001042367.2:p.Q190*

Associated Papers

Genetic variants in diminished ovarian reserve and premature ovarian insufficiency: implications for assisted reproductive outcomes.

Xu Q et al.

Journal of Assisted Reproduction and Genetics, 2025

Compound heterozygous REC114 variants in dizygotic twins causes meiotic arrest and non-obstructive azoospermia.

Ni W et al.

Basic and Clinical Andrology, 2025

Three Novel Mutations in TUBB8 Cause Female Infertility Due to Multiple Morphological Abnormalities of the Oocyte and Early Embryo.

Li D et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

A bi-allelic REC114 loss-of-function variant causes meiotic arrest and nonobstructive azoospermia.

Xu S et al.

Clinical Genetics, 2024

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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."