Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.V98fs
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ADPRS

NM_017825.3:p.V98fs

Associated Papers

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.

Danhauser K et al.

American Journal of Human Genetics, 2018

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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."