Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.S533delFs
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ABCC6

NM_001171.6:p.S533delFs

Associated Papers

Pseudoxanthoma Elasticum: The Diagnostic Accuracy of Genetic Testing Compared with Clinical Criteria in a Large Cohort.

Haverkamp M et al.

The Journal of Investigative Dermatology, 2025

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.

Hočevar K et al.

Frontiers in Pharmacology, 2019

30930780 (PubMed )
Supplement: Table_6.xlsx › Sheet1
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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."