Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.T712I
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SIM1

NM_005068.3:p.T712I

Associated Papers

Novel SIM1 Variants Expanding the Spectrum of SIM1-Related Obesity.

Mohammed I et al.

International Journal of Molecular Sciences, 2026

Obesity Characteristics Are Poor Predictors of Genetic Mutations Associated with Obesity.

Al-Humadi AW et al.

Journal of Clinical Medicine, 2023

37835041 (PubMed )
Supplement: jcm-12-06396-s001.zip › jcm-2584407-supplementary.pdf

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

Rare variants in single-minded 1 (SIM1) are associated with severe obesity.

Ramachandrappa S et al.

The Journal of Clinical Investigation, 2013

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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."