Varaico: Literature-Extracted Genetic Variants

Gene:DDX53
Variant:p.Q258K
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DDX53

NM_182699.4:p.Q258K

Associated Papers

Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder.

Yuan X et al.

Journal of Molecular Medicine (berlin, Germany), 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."