A homozygous PIWIL1 frameshift variant triggers azoospermia and reveals a strong selective constraint on germline genome integrity
PIWIL1基因纯合移码变异会导致无精子症,并揭示了生殖系基因组完整性受到强烈的选择性约束。
期刊:Journal of Assisted Reproduction and Genetics
影响因子:2.7
doi:10.1007/s10815-026-03826-0
Balde-Camara, Aissatu; Le Beulze, Morgane; Lokchine, Anna; Mary, Laura; Cierniewski, Céline; Akloul, Linda; Freton, Lucas; Pimentel, Céline; Barbotin, Anne-Laure; Livera, Gabriel; Rioux-Leclercq, Nathalie; Jaillard, Sylvie; Vialard, François