Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
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DOI: 10.1002/humu.24235
Abstract: Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule‐associated protein 210 (GMAP‐210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular… read more here.
Keywords: 5457 81t; deep intronic; variant 5457; variant ... See more keywords