Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.L90L
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SPAG5

NM_006461.4:p.L90L

Associated Papers

Porphobilinogen deaminase gene in African and Afro-Caribbean ethnic groups: mutations causing acute intermittent porphyria and specific intragenic polymorphisms.

Robreau-Fraolini AM et al.

Human Genetics, 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."