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NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent

NEXMIF pathogenic variants have been known to produce a wide spectrum of X‐linked intellectual disability (ID) in both males and females. Thus far, few individuals from diverse populations have been described with NEXMIF‐related disorders. Herein, we report three individuals with NEXMIF pathogenic v...

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Detalles Bibliográficos
Autores principales: Langley, Elizabeth, Farach, Laura S., Koenig, Mary K., Northrup, Hope, Rodriguez‐Buritica, David F., Mowrey, Kate
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303243/
https://www.ncbi.nlm.nih.gov/pubmed/35146903
http://dx.doi.org/10.1002/ajmg.a.62686