Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R682_V683Splc
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NTRK1

NM_002529.4:p.R682_V683Splc

Associated Papers

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

Amin S et al.

Clinical Genetics, 2017

Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.

Indo Y

Clinical Genetics, 2012

Novel nonsense and frameshift NTRK1 gene mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Li M et al.

Genetics and Molecular Research : Gmr, 2012

Pharmacogenetics of new analgesics.

Lötsch J et al.

British Journal of Pharmacology, 2011

Genetic variability of pain perception and treatment--clinical pharmacological implications.

Lötsch J

European Journal of Clinical Pharmacology, 2011

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Rotthier A et al.

Brain : a Journal of Neurology, 2009

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.

Indo Y

Human Mutation, 2001

Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.

Mardy S et al.

American Journal of Human Genetics, 1999

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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."