Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.K502M
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ABCC6

NM_001171.6:p.K502M

Associated Papers

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

Wagenknecht JB et al.

International Journal of Molecular Sciences, 2026

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-1.docx

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

The ABCC6 Transporter: A New Player in Biomineralization.

Favre G et al.

International Journal of Molecular Sciences, 2017

28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1

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

Chassaing N et al.

Journal of Medical Genetics, 2005

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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."