Varaico: Literature-Extracted Genetic Variants

Gene:ABCC6
Variant:p.Q1143*
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ABCC6

NM_001171.6:p.Q1143*

Associated Papers

Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.

Li S et al.

Biomolecules, 2023

37371567 (PubMed )
Supplement: biomolecules-13-00988-s001.zip › biomolecules-2391899-supplementary.xlsx › Sheet1

High frequency of HTRA1 AND ABCC6 mutations in Japanese patients with adult-onset cerebral small vessel disease.

Uemura M et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

36261288 (PubMed )
Supplement: jnnp-2022-329917supp001.pdf

Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Michorowska S

Pharmaceuticals (basel, Switzerland), 2021

The ABCC6 Transporter: A New Player in Biomineralization.

Favre G et al.

International Journal of Molecular Sciences, 2017

28891970 (PubMed )
Supplement: ijms-18-01941-s001.xlsx › Sheet1

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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