Varaico: Literature-Extracted Genetic Variants

Gene:NPPA
Variant:p.E65*
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NPPA

NM_006172.4:p.E65*

Associated Papers

The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families.

Raz T 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."