Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.N358delFs
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SPAG5

NM_006461.4:p.N358delFs

Associated Papers

Clinical and biochemical characteristics and genotype-phenotype correlation in 143 Finnish and Russian patients with acute intermittent porphyria.

Fraunberg MVUZ et al.

Medicine, 2005

Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.

Mustajoki S et al.

Molecular Medicine (cambridge, Mass.), 2000

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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."