Rare variant of TBL1XR1 in West syndrome: A case report.
Yajun ShenMeng YuanHuan LuoZuozhen YangMengmeng LiangJing GanPublished in: Molecular genetics & genomic medicine (2022)
Our results expand the pathogenic variant spectrum of TBL1XR1 and strengthen the pathogenic evidence of TBL1XR1 in West syndrome.
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