Phenotypic expression of CNV carriers across tissues.

Tanzeen Yusuff,Matthew Jensen,Sneha Yennawar,Lucilla Pizzo, S. Karthikeyan,Dagny J. Gould,Avik Sarker, Erika Gedvilaite,Yurika Matsui,Janani Iyer, Zhi Chun Lai,Santhosh Girirajan

PLOS Genetics（2020）

引用 0|浏览15

暂无评分

摘要

Heatmap shows frequencies of non-neuronal developmental phenotypes observed in 1,225 human carriers of 10 pathogenic CNV deletions, curated from the DECIPHER database. CNV carriers show a variety of phenotypes that manifest across different tissues, including eye, limbs, muscle, and skeleton. (PDF)

查看译文

关键词

cnv carriers,phenotypic expression

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要