Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.E267*
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GAPDH

NM_002046.7:p.E267*

Associated Papers

NF-κB pathway variants in Iranian patients with inborn errors of immunity.

Fathi N et al.

Expert Review of Clinical Immunology, 2025

Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.

Penzel R et al.

Febs Letters, 2001

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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."