Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.Y573*
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ABCA1

NM_005502.4:p.Y573*

Associated Papers

Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease.

Sabatelli E et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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

Mercan M et al.

Journal of the Peripheral Nervous System : Jpns, 2018

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

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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."