Varaico: Literature-Extracted Genetic Variants

Gene:PERP
Variant:p.Y153*
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PERP

NM_022121.5:p.Y153*

Associated Papers

Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.

Youssefian L et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Recurrent c.459 C>A mutation of the PERP gene results in severe Olmsted syndrome with congenital hypotrichosis, atopic dermatitis, and growth retardation.

Song D et al.

The Journal of Dermatology, 2021

Olmsted syndrome with alopecia universalis caused by heterozygous mutation in PERP.

Dai S et al.

The British Journal of Dermatology, 2020

Mutations in PERP Cause Dominant and Recessive Keratoderma.

Duchatelet S et al.

The Journal of Investigative Dermatology, 2019

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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."