Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.G325D
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HR

NM_005144.5:p.G325D

Associated Papers

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

A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities.

Farkas K et al.

Archives of Dermatological Research, 2012

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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."