Varaico: Literature-Extracted Genetic Variants

Gene:SIM2
Variant:p.Y154C
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SIM2

NM_005069.6:p.Y154C

Associated Papers

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

Button EL et al.

The Biochemical Journal, 2022

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

Al-Kurbi AA et al.

European Journal of Medical Genetics, 2022

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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."