Unfolding of Novel Independent Missense Mutations in VAMP2 and AGRN and Their Collective Role in Global Developmental Delay: A Case Report

Vesicle-associated membrane protein 2 (VAMP2) and Agrin (AGRN) are crucial proteins in neurotransmission. VAMP2 is a vesicular protein that facilitates the exocytosis of neurotransmitters. At the same time, AGRN plays a critical role in the maintenance and function of neuromuscular junctions. Mutati...

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Detalles Bibliográficos
Autores principales: Heidarpour, Negar, Singh, Adityabikram, Caputo, Johnna M, Barbieri, Raquel, Pampana, Vijay S, Kamath, Vasudeva G, Kaur, Gurjinder
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511814/
https://www.ncbi.nlm.nih.gov/pubmed/36176870
http://dx.doi.org/10.7759/cureus.28464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9511814/
https://www.ncbi.nlm.nih.gov/pubmed/36176870
http://dx.doi.org/10.7759/cureus.28464

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