A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing

• Main Authors: Huanfang Xu (Author), Chunyan Wang (Author), Han Wei (Author), Tengyan Li (Author), Yigong Fang (Author), Binbin Wang (Author)
• Format: Bog
• Udgivet: Taylor & Francis Group, 2023-12-01T00:00:00Z.
• Fag: article
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Objective This study aimed to identify novel pathogenic genes and variants in a Chinese family with premature ovarian insufficiency (POI).Methods A Chinese POI family was enrolled in this study. Whole exome sequencing was performed on the proband and her mother to identify the potential causative ge...