Varaico: Literature-Extracted Genetic Variants

Gene:GLMN
Variant:p.Y141insFs
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GLMN

NM_053274.3:p.Y141insFs

Associated Papers

Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.

Brouillard P et al.

Journal of Medical Genetics, 2005

Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas").

Brouillard P et al.

American Journal of Human Genetics, 2002

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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."