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

页码：1359 / 1359

页数：1

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