Varaico: Literature-Extracted Genetic Variants

Gene:PSMD4
Variant:p.Q268*
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PSMD4

NM_002810.4:p.Q268*

Associated Papers

Functional properties of the R154X HNF-4alpha protein generated by a mutation associated with maturity-onset diabetes of the young, type 1.

Laine B et al.

Febs Letters, 2000

R127W-HNF-4alpha is a loss of function mutation but not a rare polymorphism and causes Type II diabetes in a Japanese family with MODY1.

Yang Q et al.

Diabetologia, 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."