Varaico: Literature-Extracted Genetic Variants

Gene:NUP214
Variant:p.M14T
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NUP214

NM_005085.4:p.M14T

Associated Papers

A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. Mutations in brief no. 244. Online.

Smooker PM et al.

Human Mutation, 1999

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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."