Varaico: Literature-Extracted Genetic Variants

Gene:PDGFRL
Variant:p.R29C
Back to variants list

PDGFRL

NM_001372073.1:p.R29C

Associated Papers

Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report.

Munson HE et al.

Bmc Medical Genomics, 2023

A Novel Missense Mutation in TWNK Gene Causing Perrault Syndrome Type 5 in a Chinese Family and Review of the Literature.

Wei L et al.

Pharmacogenomics and Personalized Medicine, 2022

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."