Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.S1122fs
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ABCC6

NM_001171.6:p.S1122fs

Associated Papers

Characterization of cardiovascular involvement in pseudoxanthoma elasticum families.

Campens L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

23968982 (PubMed )
Supplement: atv201967_supplemental_material2_1.0.pdf

ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones.

Plomp AS et al.

Molecular Vision, 2008

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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."