Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R654C
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NTRK1

NM_002529.4:p.R654C

Associated Papers

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Li S et al.

Pain, 2024

Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line.

Longo JF et al.

Scientific Reports, 2021

33707600 (PubMed )
Supplement: 41598_2021_85055_MOESM7_ESM.xlsx › FinalVar_Cell_Line_Variants

A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

Shaikh SS et al.

Human Mutation, 2017

Twins with hereditary sensory and autonomic neuropathy type IV with preserved periodontal sensation.

Guven Y et al.

European Journal of Medical Genetics, 2014

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

Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

Davidson G et al.

Journal of Neurology, 2012

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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."