Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.A31T
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NPPA

NM_006172.4:p.A31T

Associated Papers

Point mutation of adenosine triphosphate-binding motif generated rigor kinesin that selectively blocks anterograde lysosome membrane transport.

Nakata T et al.

The Journal of Cell Biology, 1995

Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.

Astrin KH et al.

Human Mutation, 1994

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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."