Varaico: Literature-Extracted Genetic Variants

Gene:SPAG5
Variant:p.A35V
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SPAG5

NM_006461.4:p.A35V

Associated Papers

Identification and characterization of two novel mutations that produce acute intermittent porphyria: A 3-base deletion (841-843delGGA) and a missense mutation (T35M).

De Siervi A et al.

Human Mutation, 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."