Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds

Title
Functional characterization of the TSC2 c.3598C>T (p.R1200W) missense mutation that co-segregates with tuberous sclerosis complex in mildly affected kindreds
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume 81, Issue 5, Pages 453-461
Publisher
Wiley
Online
2011-02-17
DOI
10.1111/j.1399-0004.2011.01648.x

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