Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.Y774delFs
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ABCC6

NM_001171.6:p.Y774delFs

Associated Papers

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations.

Chassaing N et al.

Journal of Medical Genetics, 2005

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X et al.

European Journal of Human Genetics : Ejhg, 2003

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O et al.

American Journal of Human Genetics, 2001

Refractory Choroidal Neovascularization in a Patient With Pseudoxanthoma Elasticum and Cowden Syndrome.

Wu F et al.

Journal of Vitreoretinal Diseases, 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."