Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.Q152E
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SIM1

NM_005068.3:p.Q152E

Associated Papers

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

Mohammed I et al.

International Journal of Molecular Sciences, 2026

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

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.

Cheon CK

Annals of Pediatric Endocrinology & Metabolism, 2016

Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like features.

Bonnefond A et al.

The Journal of Clinical Investigation, 2013

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."