Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.G620_P621insFs
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NTRK1

NM_002529.4:p.G620_P621insFs

Associated Papers

Clinical and Genetic Characterization of Hereditary Sensory and Autonomic Neuropathy Type IV in a Consanguineous Population: Identification of Novel NTRK1 Variants and Expansion of Phenotypic Spectrum.

AlHashem A et al.

American Journal of Medical Genetics. Part A, 2025

NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study.

Echaniz-Laguna A et al.

Neurogenetics, 2021

Genetic basis of neurodevelopmental disorders in 103 Jordanian families.

Froukh T et al.

Clinical Genetics, 2020

Congenital insensitivity to pain with anhidrosis syndrome: A series from Jordan.

Masri A et al.

Clinical Neurology and Neurosurgery, 2020

Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.

Altassan R et al.

American Journal of Medical Genetics. Part A, 2017

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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."