Varaico: Literature-Extracted Genetic Variants

Gene:ABCC8
Variant:p.Q1347H
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ABCC8

NM_000352.6:p.Q1347H

Associated Papers

Analysis of pseudoxanthoma elasticum-causing missense mutants of ABCC6 in vivo; pharmacological correction of the mislocalized proteins.

Pomozi V et al.

The Journal of Investigative Dermatology, 2014

Polymorphisms of MRP1 (ABCC1) and related ATP-dependent drug transporters.

Conseil G et al.

Pharmacogenetics and Genomics, 2005

ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.

Hu X et al.

European Journal of Human Genetics : Ejhg, 2003

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O et al.

American Journal of Human Genetics, 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."