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Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion

Detalles Bibliográficos
Autores principales: Zhou, Cong, Wei, Xing, Xiao, Yuanyuan, Liu, Shanling, Wang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10476734/
https://www.ncbi.nlm.nih.gov/pubmed/37667433
http://dx.doi.org/10.1097/CM9.0000000000002285