Código QR (código de barras bidimensional)

Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders

STXBP1 variants are one of the most common genetic causes of neurodevelopmental disorders and epilepsy, wherein STXBP1-related disorders are characterized by neurodevelopmental abnormalities in 95% and seizures in 89% of affected patients. However, the spectrums of both genotype and phenotype are qu...

ver descrição completa

Na minha lista:
Principais autores: Haiping Wang, Xiuli Chen, Zhanli Liu, Chen Chen, Xin Liu, Mingwei Huang, Zhuying Zhou
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2023-03-01
coleção:Frontiers in Neurology
Assuntos:
STXBP1-related disorder
Ohtahara syndrome
epilepsy
splice variant
functional study
RT-PCR
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fneur.2023.1146875/full
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados