Rare autosomal-recessive missense variants in C2CD3 as a novel cause of non-syndromic nephronophthisis

被引：0
|
作者：
Sentell, Zachary [1 ]
Mougharbel, Lina [2 ]
Nurcombe, Zachary [1 ]
Babayeva, Sima [3 ]
Henein, Marc [4 ]
Chu, Lee Lee [2 ]
Akpa, Murielle [2 ]
Riviere, Jean-Baptiste [2 ]
Goodyer, Paul [5 ]
Torban, Elena [3 ]
Kitzler, Thomas [6 ]
机构：
[1] McGill Univ, Dept Human Genet, Montreal, PQ, Canada
[2] McGill Univ, Hlth Ctr, Res Inst, Montreal, PQ, Canada
[3] McGill Univ, Hlth Ctr, Dept Med, Montreal, PQ, Canada
[4] McGill Univ, Sch Med, Montreal, PQ, Canada
[5] McGill Univ, Hlth Ctr, Dept Pediat, Montreal, PQ, Canada
[6] McGill Univ, Hlth Ctr, Div Med Genet, Montreal, PQ, Canada
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32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：
P05.037.A
引用
收藏
页码：1359 / 1359
页数：1
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