Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.S383L
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ABCC6

NM_001171.6:p.S383L

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

Longitudinal Analyses of Mutational Subclonal Architecture and Tumor Subtypes in Recurrent Bladder Cancer.

Ryu D et al.

International Journal of Molecular Sciences, 2023

37176124 (PubMed )
Supplement: ijms-24-08418-s001.zip › Supplementary_Table_S2.xlsx › MUT_P5

Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.

Li Q et al.

The Journal of Investigative Dermatology, 2009

Identification of the anatomic defect in pseudoxanthoma elasticum.

FISHER ER et al.

The American Journal of Pathology, 0

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