Varaico: Literature-Extracted Genetic Variants

Gene:GDE1
Variant:p.L23P
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GDE1

NM_016641.4:p.L23P

Associated Papers

Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness.

Hu H et al.

Annals of Clinical and Translational Neurology, 2014

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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."