Varaico: Literature-Extracted Genetic Variants

Gene:KY
Variant:p.E275delFs
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KY

NM_178554.6:p.E275delFs

Associated Papers

Kyphoscoliosis peptidase deficiency-induced myofibrillar degeneration, focal depletion of mitochondria, and protein aggregation: A true myofibrillar myopathy?

Durmuş H et al.

Journal of Neuromuscular Diseases, 2025

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant.

Misumi Y et al.

Journal of Human Genetics, 2024

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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."