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t/gene-abcc6

ABCC6 gene

Discuss publications and research concerning the ABCC6 gene.

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Related literature

Usefulness of PPi levels to interpret variants of unknown significance and incomplete penetrant alleles in the ABCC6 gene.
ABCC6
Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases.
ABCC6
Atypical angioid streaks in a patient with a monoallelic ABCC6 mutation.
ABCC6
Pseudoxanthoma elasticum and retinitis pigmentosa in a patient with a novel mutation in the ABCC6 gene.
ABCC6
Retinal findings in a patient with mutations in ABCC6 and ABCA4.
ABCC6
ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum.
ABCC6
The ABCC6 Transporter: A New Player in Biomineralization.
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ABCC6 and Pseudoxanthoma Elasticum: The Face of a Rare Disease from Genetics to Advocacy.
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Generalized Arterial Calcification in a Recipient Twin: Discordant Fetal Hemodynamics Result in Differing Phenotypes in Monozygotic Twins with an ABCC6 Mutation.
ABCC6
[Pseudoxanthoma elasticum: A rare cause of gastrointestinal bleeding in children].
ABCC6

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