Varaico: Literature-Extracted Genetic Variants

Gene:UVRAG
Variant:p.P581delFs
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UVRAG

NM_003369.4:p.P581delFs

Associated Papers

Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.

Clements SE et al.

The British Journal of Dermatology, 2010

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Kannu P et al.

American Journal of Medical Genetics. Part A, 2006

Molecular evidence that AEC syndrome and Rapp-Hodgkin syndrome are variable expression of a single genetic disorder.

Bertola DR et al.

Clinical Genetics, 2004

Ankyloblepharon-ectodermal dysplasia-clefting syndrome: a novel p63 mutation associated with generalized neonatal erosions.

Sawardekar SS et al.

Pediatric Dermatology, 0

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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."