Varaico: Literature-Extracted Genetic Variants

Gene:HR
Variant:p.R940*
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HR

NM_005144.5:p.R940*

Associated Papers

Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families.

Ali G et al.

The Journal of Gene Medicine, 2020

Photoletter to the editor: Congenital atrichia associated with an uncommon mutation of HR gene.

Pedrosa A et al.

Journal of Dermatological Case Reports, 2013

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

Novel mutation in the human hairless gene once more erroneously diagnosed and treated as 'alopecia areata'.

Roelandt T et al.

The British Journal of Dermatology, 2008

Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.

Kim H et al.

Journal of Dermatological Science, 2007

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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."