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

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 und...

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Detalles Bibliográficos
Autores principales: Shatokhina, Olga, Kovalskaia, Valeriia, Sparber, Peter, Sharkova, Inna, Mishina, Irina, Kuznetsova, Vera, Ryzhkova, Oxana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648248/
https://www.ncbi.nlm.nih.gov/pubmed/37958557
http://dx.doi.org/10.3390/ijms242115572

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648248/
https://www.ncbi.nlm.nih.gov/pubmed/37958557
http://dx.doi.org/10.3390/ijms242115572

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