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Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

2024-07-01

Abstract excerpt

<h4>ABSTRACT</h4> Transmembrane protein 184B (TMEM184B) is an endosomal 7-pass transmembrane protein with evolutionarily conserved roles in synaptic structure and axon degeneration. We report six pediatric cases who have de novo heterozygous variants in TMEM184B ; five individuals harbor a rare missense variant and one individual has an mRNA splice site change. This cohort is unified by overlapping neurodevelopme...

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Literature Corpus work
b57bfb10-14e9-53e9-a5cb-601fedc29009
DOI
10.1101/2024.06.27.24309417
Open publication

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Pathogenic variants in <i>TMEM184B</i> cause a neurodevelopmental syndrome associated with alteration of metabolic signalingDOI 10.1101/2024.06.27.24309417
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