pgen.1008792.s001.pdf (459.87 kB)
Phenotypic expression of CNV carriers across tissues.
journal contribution
posted on 2020-06-24, 17:27 authored by Tanzeen Yusuff, Matthew Jensen, Sneha Yennawar, Lucilla Pizzo, Siddharth Karthikeyan, Dagny J. Gould, Avik Sarker, Erika Gedvilaite, Yurika Matsui, Janani Iyer, Zhi-Chun Lai, Santhosh GirirajanHeatmap 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.
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