Varaico: Literature-Extracted Genetic Variants

Gene:HRURF
Variant:p.M1L
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HRURF

NM_001394132.1:p.M1L

Associated Papers

A Japanese Case of Marie Unna Hereditary Hypotrichosis With a HRURF Gene Variant.

Yamamoto J et al.

The Journal of Dermatology, 2026

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

Zhong Z et al.

Clinical and Experimental Dermatology, 2016

Genetics of human isolated hereditary hair loss disorders.

Basit S et al.

Clinical Genetics, 2015

25350920 (PubMed )
Supplement: supplement_1.pdf

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

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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."