Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.D596N
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NTRK1

NM_002529.4:p.D596N

Associated Papers

Uncovering the missing mutations in pain.

Pham QTT et al.

Pain, 2024

Clinical Impact of Immune Checkpoint Inhibitor (ICI) Response, DNA Damage Repair (DDR) Gene Mutations and Immune-Cell Infiltration in Metastatic Melanoma Subtypes.

Andrieu C et al.

Medical Sciences (basel, Switzerland), 2022

35736346 (PubMed )
Supplement: medsci-10-00026-s001.zip › medsci-1650480-supplementary.pdf

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 NTRK1 mutations associated with congenital insensitivity to pain with anhidrosis verified by functional studies.

Nam TS et al.

Journal of the Peripheral Nervous System : Jpns, 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."