Varaico: Literature-Extracted Genetic Variants

Gene:ADSS1
Variant:p.D9ins5
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ADSS1

NM_152328.5:p.D9ins5

Associated Papers

Clinical-pathological features and muscle imaging findings in 36 Chinese patients with rimmed vacuolar myopathies: case series study and review of literature.

Wei XJ et al.

Frontiers in Neurology, 2023

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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."