Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.P194fs
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NTRK1

NM_002529.4:p.P194fs

Associated Papers

Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis.

Li S et al.

Pain, 2024

Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.

Zhang P et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var

Molecular genetic analysis in 21 Chinese families with congenital insensitivity to pain with or without anhidrosis.

Zhao F et al.

European Journal of Neurology, 2020

Novel NTRK1 mutations in Chinese patients with congenital insensitivity to pain with anhidrosis.

Geng X et al.

Molecular Pain, 0

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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."