Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.M581V
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NTRK1

NM_001012331.2:p.M581V

Associated Papers

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.

Cho JH et al.

Molecular Genetics & Genomic Medicine, 2024

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

Amin S et al.

Clinical Genetics, 2017

Functional characterization of NTRK1 mutations identified in melanoma.

Miranda C et al.

Genes, Chromosomes & Cancer, 2014

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

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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."