Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.A1291T
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ABCC6

NM_001171.6:p.A1291T

Associated Papers

A Multi-State Structural Genomics Approach Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.

Wagenknecht JB et al.

Biorxiv : the Preprint Server for Biology, 2025

40667354 (PubMed )
Supplement: media-2.xlsx › Table_S1_Supplement

Massive Dilatation of the Ascending Aorta in a Patient With Generalized Arterial Calcification of Infancy.

Brunet-Garcia L et al.

World Journal for Pediatric & Congenital Heart Surgery, 2023

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke.

De Vilder EYG et al.

Brain Pathology (zurich, Switzerland), 2018

Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Kelly L et al.

Protein Science : a Publication of the Protein Society, 2010

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."