Associated Papers
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A et al.
Brain : a Journal of Neurology, 2023
37769650 (PubMed )
Supplement: awad328_supplementary_data.zip › brain-2023-00799-File006.xlsx › Tabelle1
Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.
López-Cortés A et al.
Bmc Medical Genomics, 2020
32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S1
Before progressing from "exomes" to "genomes"… don't forget splicing variants.
Shaikh SS et al.
European Journal of Human Genetics : Ejhg, 2018
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).
Shaikh SS et al.
Human Mutation, 2017
27676246 (PubMed )
Supplement: HUMU-38-55-s001.pdf
Select a paper to view details