Varaico: Literature-Extracted Genetic Variants

Gene:PTRH2
Variant:p.Q86*
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PTRH2

NM_001015509.3:p.Q86*

Associated Papers

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Mammi A et al.

Journal of the Peripheral Nervous System : Jpns, 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."