Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R602*
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NTRK1

NM_002529.4:p.R602*

Associated Papers

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

Li S et al.

Pain, 2024

A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family.

Sun L et al.

Frontiers in Genetics, 2024

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

Echaniz-Laguna A et al.

Neurogenetics, 2021

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

López-Cortés A et al.

Bmc Medical Genomics, 2020

Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.

Zhao F et al.

European Journal of Neurology, 2020

Heterogeneity of clinical features and mutation analysis of NTRK1 in Han Chinese patients with congenital insensitivity to pain with anhidrosis.

Li N et al.

Journal of Pain Research, 2019

Phenotypes and Genotypes in Five Children with Congenital Insensitivity to Pain with Anhidrosis.

Wang QL et al.

Pediatric Neurology, 2016

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

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Geng X et al.

Molecular Pain, 0

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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."