Varaico: Literature-Extracted Genetic Variants

Gene:GPHN
Variant:p.Q44*
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GPHN

NM_020806.5:p.Q44*

Associated Papers

Molybdenum cofactor deficiency: clinical features in a Turkish patient.

Per H et al.

Brain & Development, 2007

[Hereditary xanthinuria and molybdenum cofactor deficiency].

Ichida K

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2003

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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."