Varaico: Literature-Extracted Genetic Variants

Gene:SIM1
Variant:p.P352T
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SIM1

NM_005068.3:p.P352T

Associated Papers

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

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

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Stanikova D et al.

Plos One, 2017

Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.

Geets E et al.

Molecular Genetics and Metabolism, 2016

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L et al.

European Journal of Human Genetics : Ejhg, 2015

Mutation screen of the SIM1 gene in pediatric patients with early-onset obesity.

Zegers D et al.

International Journal of Obesity (2005), 2014

Functional characterization of SIM1-associated enhancers.

Kim MJ et al.

Human Molecular Genetics, 2014

Associations between oxytocin-related genes and autistic-like traits.

Hovey D et al.

Social Neuroscience, 2014

Replication and extension of association between common genetic variants in SIM1 and human adiposity.

Swarbrick MM et al.

Obesity (silver Spring, Md.), 2011

Analysis of the SIM1 contribution to polygenic obesity in the French population.

Ghoussaini M et al.

Obesity (silver Spring, Md.), 2010

Common variation in SIM1 is reproducibly associated with BMI in Pima Indians.

Traurig M et al.

Diabetes, 2009

Studies of the SIM1 gene in relation to human obesity and obesity-related traits.

Hung CC et al.

International Journal of Obesity (2005), 2007

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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."