Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.M239_K240Splc
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NTRK1

NM_002529.4:p.M239_K240Splc

Associated Papers

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

Nerve growth factor and the physiology of pain: lessons from congenital insensitivity to pain with anhidrosis.

Indo Y

Clinical Genetics, 2012

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

Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.

Indo Y

Human Mutation, 2001

Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.

Indo Y et al.

Human Mutation, 2001

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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."