Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.G1304delFs
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ABCC6

NM_001171.6:p.G1304delFs

Associated Papers

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

Pfendner EG et al.

Journal of Medical Genetics, 2007

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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."