Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.E232Splc
Back to variants list

GDAP1

NM_018972.4:p.E232Splc

Associated Papers

Clinical and Genetic Variant Profile of Asian Charcot-Marie Tooth Patients: A Systematic Review.

Kavoosi S et al.

Iranian Journal of Public Health, 2025

Identification and functional characterization of novel GDAP1 variants in Chinese patients with Charcot-Marie-Tooth disease.

Chen CX et al.

Annals of Clinical and Translational Neurology, 2020

An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.

Mena R et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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."