Varaico: Literature-Extracted Genetic Variants

Gene:HRURF
Variant:p.P25L
Back to variants list

HRURF

NM_001394132.1:p.P25L

Associated Papers

Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family.

Yoshida K et al.

The Journal of Dermatology, 2017

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 2015

Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.

Yun SK et al.

International Journal of Dermatology, 2014

Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.

Yang J et al.

International Journal of Dermatology, 2014

Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript.

Ramot Y et al.

Experimental Dermatology, 2010

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."