Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.W506*
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ABCC6

NM_001171.6:p.W506*

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

Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.

Kozák E et al.

Journal of Clinical Medicine, 2023

36769695 (PubMed )
Supplement: jcm-12-01047-s001.zip › jcm-2044709-supplementary.xlsx › PXE

Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.

Kalaora S et al.

Oncotarget, 2016

26819371 (PubMed )
Supplement: oncotarget-07-5110-s002.xlsx › Genome_sequencing
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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."