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. 2020 Sep 16;58(11):783–788. doi: 10.1136/jmedgenet-2020-106909

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© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

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Pedigree of the family. Two women with RPL history (II-6 and II-7) were born from first-cousins (I-3 and I-4). The probands (II-6 and II-7) and their parents (I-3 and I-4) underwent WES after routine clinical procedure failing to determine the cause of their RPL. Analysis of WES data revealed that II-6 and II-7 were homozygous for the missense variant g.50346749T>A (ChrX, GRCh38/hg38) (SCV000886503, p.V1251D) in the CCNB3 gene. The genotypes of II-5, II-8, II-9, II-10, III-12 and III-15 were determined by Sanger sequencing. RPL, recurrent pregnancy loss; WES, whole-exome sequencing.