Varaico: Literature-Extracted Genetic Variants

Gene:HRURF
Variant:p.P25A
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HRURF

NM_001394132.1:p.P25A

Associated Papers

Human Hairless Protein Roles in Skin/Hair and Emerging Connections to Brain and Other Cancers.

Maatough A et al.

Journal of Cellular Biochemistry, 2018

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

25350920 (PubMed )
Supplement: supplement_1.pdf

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

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.

Wen Y et al.

Nature Genetics, 2009

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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."