Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.V1136D
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HR

NM_005144.5:p.V1136D

Associated Papers

Atrichia with papular lesions in a chinese family caused by novel compound heterozygous mutations and literature review.

Wang S et al.

Dermatology (basel, Switzerland), 2013

Mutations in the hairless gene underlie APL in three families of Pakistani origin.

Kraemer L et al.

Journal of Dermatological Science, 2008

Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.

Wang J et al.

The Journal of Biological Chemistry, 2007

Hairless and Wnt signaling: allies in epithelial stem cell differentiation.

Thompson CC et al.

Cell Cycle (georgetown, Tex.), 2006

Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia.

Cichon S et al.

Human Molecular Genetics, 1998

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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."