Assessing actin-pathway interactions in variants identified in patients with ocular coloboma
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https://www.omicsdi.org/dataset/pride/PXD005090
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资源简介:
We used whole exome sequence to identify de novo mutations in patients with ocular coloboma. Three of these encoded actin pathway components, ACTG1, TWF1 and LCP1. Mass spectrometry-based interactomes of wild-type and mutant proteins were performed to reveal altered functional interactions for all three variants.
创建时间:
2017-05-24



