Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.E57E
Back to variants list

INS

NM_000207.3:p.E57E

Associated Papers

Mutation analysis of NR0B2 among 1545 Danish men identifies a novel c.278G>A (p.G93D) variant with reduced functional activity.

Echwald SM et al.

Human Mutation, 2004

Gender-dependent penetrance of small heterodimer partner (SHP) gene deficiency in overweight/obese Chinese pedigrees.

Yang Z et al.

The Journal of International Medical Research, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."