Varaico: Literature-Extracted Genetic Variants

Gene:KY
Variant:p.R139*
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KY

NM_178554.6:p.R139*

Associated Papers

A novel homozygous KY variant causing a complex neurological disorder.

Arif B et al.

European Journal of Medical Genetics, 2020

Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy.

Ebrahimzadeh-Vesal R et al.

Genes & Diseases, 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."