Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.N64insFs
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GAPDH

NM_002046.7:p.N64insFs

Associated Papers

Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.

Vihola A et al.

Neuropathology and Applied Neurobiology, 2018

A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide.

Xu J et al.

The Journal of Pathology. Clinical Research, 2018

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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."