Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.W15*
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NTRK1

NM_002529.4:p.W15*

Associated Papers

Atypical Presentation of Congenital Insensitivity to Pain With Anhidrosis Leading to Diagnostic Odyssey.

Higashimoto T et al.

Molecular Genetics & Genomic Medicine, 2024

39465509 (PubMed )
Supplement: MGG3-12-e70027-s002.docx

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

Identification of a novel mutation of the NTRK1 gene in patients with congenital insensitivity to pain with anhidrosis (CIPA).

Wang WB et al.

Gene, 2018

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

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."