A novel splice site mutation in the CNOT3 gene is associated with syndromic intellectual disability with clinical variability

被引：0
|
作者：
Bruno, Lucia [1 ,2 ,3 ]
Privitera, Flavia [1 ,2 ,3 ]
Lo Rizzo, Caterina [4 ]
Carullo, Michele [2 ,3 ,4 ]
Zguro, Kristina [2 ,3 ]
Furini, Simone [2 ,3 ]
Renieri, Alessandra [1 ,2 ,3 ,4 ]
Ariani, Francesca [1 ,2 ,3 ,4 ]
机构：
[1] Univ Siena, Med Genet, Siena, Italy
[2] Univ Siena, Med Biotech Hub, Siena, Italy
[3] Univ Siena, Dept Med Biotechnol, Competence Ctr, Siena, Italy
[4] Azienda Osped Univ Senese, Genet Med, Siena, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P09.003.C
引用
收藏
页码：444 / 444
页数：1
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