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Identification and functional analysis of two new de novo KCNMA1 variants associated with Liang-Wang syndrome.

Lina LiangHuihui LiuDeborah BartholdiArie van HaeringenAlberto Fernandez-JaénEls E A PeetersHongbo XiongXuemei BaiChengqi XuTie KeQing Kenneth Wang
Published in: Acta physiologica (Oxford, England) (2022)
Our findings identified two new loss-of-function mutations of KCNMA1 associated with Liang-Wang syndrome, expanded the spectrum of clinical features associated with gain-of-function KCNMA1 variants and emphasized the overlapping features shared by gain-of-function and loss-of-function mutations.
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