Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.M1456delFs
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ABCA1

NM_005502.4:p.M1456delFs

Associated Papers

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

Colaco A et al.

Journal of Inherited Metabolic Disease, 2020

Peripheral neuropathy in Tangier disease: A literature review and assessment.

Mercan M et al.

Journal of the Peripheral Nervous System : Jpns, 2018

Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved.

Stocchi L et al.

Molecular Genetics and Metabolism, 2018

Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Fasano T et al.

Molecular Genetics and Metabolism, 2012

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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."