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Molecular Insights into IQSEC2 Disease

Recent insights into IQSEC2 disease are summarized in this review as follows: (1) Exome sequencing of IQSEC2 patient DNA has led to the identification of numerous missense mutations that delineate at least six and possibly seven essential functional domains present in the IQSEC2 gene. (2) Experiment...

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Detalles Bibliográficos
Autores principales: Levy, Nina S., Borisov, Veronika, Lache, Orit, Levy, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10003148/
https://www.ncbi.nlm.nih.gov/pubmed/36902414
http://dx.doi.org/10.3390/ijms24054984