Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R554fs
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NTRK1

NM_002529.4:p.R554fs

Associated Papers

Identification of novel variations in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis.

Li S et al.

Molecular Genetics & Genomic Medicine, 2021

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

Echaniz-Laguna A et al.

Neurogenetics, 2021

Atypical hereditary sensory and autonomic neuropathy type IV with neither mental retardation nor pain insensitivity.

Jung CL et al.

Journal of Child Neurology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."