Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.K544_A545Splc
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NTRK1

NM_002529.4:p.K544_A545Splc

Associated Papers

Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.

Liu Z et al.

The Journal of International Medical Research, 2018

A novel NTRK1 mutation in a patient with congenital insensitivity to pain with anhidrosis.

Yiş U et al.

Acta Neurologica Belgica, 2015

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 cause hereditary sensory and autonomic neuropathy type IV: demonstration of a founder mutation in the Turkish population.

Tüysüz B et al.

Neurogenetics, 2008

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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."