Varaico: Literature-Extracted Genetic Variants

Gene:PUS1
Variant:p.E384K
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PUS1

NM_025215.6:p.E384K

Associated Papers

MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia.

Sait B et al.

Annals of Indian Academy of Neurology, 0

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN): Two Phenotypes-Dystonia and Spastic Paraparesis.

Kola S et al.

Annals of Indian Academy of Neurology, 0

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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."