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On this page, you will find information about a genetic change that was identified in a UDN participant.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a male, age 5 with absolute iron deficiency anemia (read full description).
Jul 18, 2017
Piezo-type mechanosensitive ion channel component 1
The PIEZO1 gene codes for a protein that induces mechanically activiated currents in various cell types (Coste et al., 2010).
Two variants of uncertain significance in this gene were identified in a UDN participant.
Of note: The protein coded for by this gene was not found to be defective.
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