Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1
Variant:p.E222D
Back to variants list

GDAP1

NM_018972.4:p.E222D

Associated Papers

A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.

Kabzińska D et al.

Acta Biochimica Polonica, 2014

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."