Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.S309G
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SIM1

NM_005068.3:p.S309G

Associated Papers

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.

Blackburn PR et al.

The Journal of Clinical Endocrinology and Metabolism, 2020

Identification of two novel loss-of-function SIM1 mutations in two overweight children with developmental delay.

Montagne L et al.

Obesity (silver Spring, Md.), 2014

Characterization of human variants in obesity-related SIM1 protein identifies a hot-spot for dimerization with the partner protein ARNT2.

Sullivan AE et al.

The Biochemical Journal, 2014

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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."