Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.G192Splc
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NTRK1

NM_002529.4:p.G192Splc

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

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

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

Geng X et al.

Molecular Pain, 0

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