Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.R769K
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ABCC6

NM_001171.6:p.R769K

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

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A

Exome-First Strategy in Adult Patients With CKD: A Cohort Study.

Doreille A et al.

Kidney International Reports, 2023

36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1

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

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