Varaico: Literature-Extracted Genetic Variants

Gene:HRURF
Variant:p.*35W
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HRURF

NM_001394132.1:p.*35W

Associated Papers

Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis.

Zhong Z et al.

Clinical and Experimental Dermatology, 2016

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

Clinical Presentation of a Family Diagnosed With Marie Unna Hereditary Hypotrichosis 1 Caused by a Novel Variant in HRURF.

Holm SØ et al.

Pediatric Dermatology, 0

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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."