Varaico: Literature-Extracted Genetic Variants

Gene:EPPK1
Variant:p.V287V
Back to variants list

EPPK1

NM_031308.4:p.V287V

Associated Papers

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

Whittock NV et al.

The Journal of Investigative Dermatology, 2002

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."