Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.L11L
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SPAG5

NM_006461.4:p.L11L

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 in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

Floderus Y et al.

Clinical Genetics, 2002

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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."