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Novel 9 amino acid in‐frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. Issue 5 (21st September 2017)
Record Type:
Journal Article
Title:
Novel 9 amino acid in‐frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis. Issue 5 (21st September 2017)
Main Title:
Novel 9 amino acid in‐frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis
Abstract : Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin‐like domain; TM, transmembrane domain; TK, tyrosine kinase domain).