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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UVRAG

Variant:p.L333_N334Splc

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UVRAG

NM_003369.4:p.L333_N334Splc

hg38:chr11:76008805 A>G

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

20491771 (PubMed )

Splitting p63.

van Bokhoven H et al.

American Journal of Human Genetics, 2002

12037717 (PubMed )

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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."