Varaico: Literature-Extracted Genetic Variants

Gene:OPHN1
Variant:p.M104_V105Splc
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OPHN1

NM_002547.3:p.M104_V105Splc

Associated Papers

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Compagnucci C et al.

Stem Cells Translational Medicine, 2016

Rho-kinase signaling controls nucleocytoplasmic shuttling of class IIa histone deacetylase (HDAC7) and transcriptional activation of orphan nuclear receptor NR4A1.

Compagnucci C et al.

Biochemical and Biophysical Research Communications, 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."