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Article

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study.

International journal of molecular sciences - 25 Oct 2023

Shatokhina Olga, Kovalskaia Valeriia, Sparber Peter, Sharkova Inna, Mishina Irina, Kuznetsova Vera, Ryzhkova Oxana

Abstract excerpt

In this study, we report a novel splice variant in the TRA2B gene identified in a patient presenting with seizures and neurodevelopmental delay. This paper represents the second investigation of pathogenic variants in the TRA2B gene in humans, reaffirming the conclusions of the initial study and underscoring the importance of this research. Comprehensive genetic testing, including whole genome sequencing, Sanger...

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Identifiers

PMID: 37958557
DOI: 10.3390/ijms242115572
PMCID: PMC10648248

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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