Varaico: Literature-Extracted Genetic Variants

Gene:ECD
Variant:p.F346C
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ECD

NM_007265.3:p.F346C

Associated Papers

Siblings with the adult-onset slowly progressive type of pantothenate kinase-associated neurodegeneration and a novel mutation, Ile346Ser, in PANK2: clinical features and (99m)Tc-ECD brain perfusion SPECT findings.

Doi H et al.

Journal of the Neurological Sciences, 2010

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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."