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Whole‐exome sequencing identifies a homozygous donor splice‐site mutation in STAG3 that causes primary ovarian insufficiency
Authors:L.‐L. Meng  J. Du  F. Gong  H. Huang  X.‐X. Zhang  Y.‐Y. Wang  G.‐X. Lu  G. Lin  Y.‐Q. Tan
Affiliation:1. Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, People's Republic of China;2. Reproductive and Genetic Hospital of CITIC‐Xiangya, Changsha, People's Republic of China;3. BGI‐Shenzhen, Shenzhen, People's Republic of China
Abstract:
Keywords:aberrant splicing  donor splice site  primary ovarian insufficiency  STAG3 gene  whole‐exome sequencing
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