Varaico: Literature-Extracted Genetic Variants

Gene:ABCC1
Variant:p.T320delFs
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ABCC1

NM_004996.4:p.T320delFs

Associated Papers

[Pseudoxanthoma elasticum].

Ladewig MS et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2006

Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11.

Meloni I et al.

Human Mutation, 2001

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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."