Varaico: Literature-Extracted Genetic Variants

Gene:SH2B1
Variant:p.R67C
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SH2B1

NM_001387430.1:p.R67C

Associated Papers

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.

Giuranna J et al.

Obesity Facts, 2018

Genetic and structural variation in the SH2B1 gene in the Belgian population.

Aerts E et al.

Molecular Genetics and Metabolism, 2015

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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."