Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.C300delins
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NTRK1

NM_002529.4:p.C300delins

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

Mutations in TrkA Causing Congenital Insensitivity to Pain with Anhidrosis (CIPA) Induce Misfolding, Aggregation, and Mutation-dependent Neurodegeneration by Dysfunction of the Autophagic Flux.

Franco ML et al.

The Journal of Biological Chemistry, 2016

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