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Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis

NEB mutation is associated with congenital nemaline myopathies. Here, we report a family with recurrent prenatal arthrogryposis. Trio whole exome sequencing (WES) disclosed three novel NEB (NM_001271208.2) variants including one paternal frameshift c.19049_19050delCA (p.Thr6350Argfs*14) and two doub...

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Detalles Bibliográficos
Autores principales:	Liu, Yuefang, Xu, Juan, Lv, Qiaoyi, Liang, Zhe, Li, Lingling, Pan, Qiong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10512086/ https://www.ncbi.nlm.nih.gov/pubmed/37745844 http://dx.doi.org/10.3389/fgene.2023.1220170

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