TY - GEN AU - Franca, Monica M AU - Condezo, Yazmine B AU - Elzaiat, Maëva AU - Felipe-Medina, Natalia AU - Sánchez-Sáez, Fernando AU - Muñoz, Sergio AU - Sainz-Urruela, Raquel AU - Martín-Hervás, M Rosario AU - García-Valiente, Rodrigo AU - Sánchez-Martín, Manuel A AU - Astudillo, Aurora AU - Mendez, Juan AU - Llano, Elena AU - Veitia, Reiner A AU - Mendonca, Berenice B AU - Pendás, Alberto M PY - 2022 UR - https://hdl.handle.net/20.500.12105/25853 AB - Primary ovarian insufficiency (POI) causes female infertility by abolishing normal ovarian function. Although its genetic etiology has been extensively investigated, most POI cases remain unexplained. Using whole-exome sequencing, we identified a... LA - eng PB - Nature Publishing Group KW - GENOME-WIDE ASSOCIATION KW - HOMOLOGOUS RECOMBINATION KW - DNA KW - REPAIR KW - GENE KW - MUTATIONS KW - CANCER KW - LETHALITY KW - IMPACT TI - A truncating variant of RAD51B associated with primary ovarian insufficiency provides insights into its meiotic and somatic functions. TY - research article ER -