Varaico: Literature-Extracted Genetic Variants

Gene:NTRK1
Variant:p.R554delFs
Back to variants list

NTRK1

NM_002529.4:p.R554delFs

Associated Papers

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

Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation.

Tanaka T et al.

The British Journal of Dermatology, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."