Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.L601R
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NTRK1

NM_002529.4:p.L601R

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

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

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."