Varaico: Literature-Extracted Genetic Variants

Gene:SIM2
Variant:p.A108T
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SIM2

NM_005069.6:p.A108T

Associated Papers

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

Button EL et al.

The Biochemical Journal, 2022

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

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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."