Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R133C
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TH

NM_000360.4:p.R133C

Associated Papers

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome.

Caffarelli C et al.

Bmc Medical Genetics, 2020

Are dopamine receptor and transporter changes in Rett syndrome reflected in Mecp2-deficient mice?

Wong DF et al.

Experimental Neurology, 2018

Efficient and versatile CRISPR engineering of human neurons in culture to model neurological disorders.

Shah RR et al.

Wellcome Open Research, 2016

MeCP2 in the regulation of neural activity: Rett syndrome pathophysiological perspectives.

Cuddapah VA et al.

Degenerative Neurological and Neuromuscular Disease, 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."