Varaico: Literature-Extracted Genetic Variants

Gene:C3
Variant:p.N701D
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C3

NM_000064.4:p.N701D

Associated Papers

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

Vihola A et al.

Neuropathology and Applied Neurobiology, 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."