Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.W506L
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ABCC6

NM_001171.6:p.W506L

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

Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).

Ferreira CR et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Predicted_pathogenic
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