Varaico: Literature-Extracted Genetic Variants

Gene:AR
Variant:p.L123V
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AR

NM_000044.6:p.L123V

Associated Papers

C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.

Mylvaganam S et al.

Current Neuropharmacology, 2021

Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

Kanack AJ et al.

The Journal of Biological Chemistry, 2018

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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."