Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.N289insFs
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HP

NM_005143.5:p.N289insFs

Associated Papers

Fructose 1,6-bisphosphatase deficiency: clinical, biochemical and genetic features in French patients.

Lebigot E et al.

Journal of Inherited Metabolic Disease, 2015

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N et al.

Brain : a Journal of Neurology, 2008

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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."