Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.V211E
Back to variants list

NTRK1

NM_002529.4:p.V211E

Associated Papers

First instance of pain in congenital pain insensitivity with anhidrosis.

Itmaiza MN et al.

Clinical Neurology and Neurosurgery, 2025

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

Li S et al.

Pain, 2024

Uncovering the missing mutations in pain.

Pham QTT 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

Novel Gross Deletion Mutations in NTRK1 Gene Associated With Congenital Insensitivity to Pain With Anhidrosis.

Li L et al.

Frontiers in Pediatrics, 2021

33748046 (PubMed )
Supplement: Table_2.XLSX › Sheet2

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

Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis: A case report.

Li N et al.

Medicine, 2018

Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.

Sun Y et al.

Scientific Reports, 2018

30076350 (PubMed )
Supplement: 41598_2018_30151_MOESM1_ESM.docx

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

Geng X et al.

Molecular Pain, 0

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.

Suthar R et al.

Neurology India, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."