Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.R1169Splc
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ABCC6

NM_001171.6:p.R1169Splc

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
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