Varaico: Literature-Extracted Genetic Variants

Gene:HDAC1
Variant:p.R306C
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HDAC1

NM_004964.3:p.R306C

Associated Papers

MeCP2 and Chromatin Compartmentalization.

Schmidt A et al.

Cells, 2020

Restoring Wnt6 signaling ameliorates behavioral deficits in MeCP2 T158A mouse model of Rett syndrome.

Hsu WL et al.

Scientific Reports, 2020

Leveraging the genetic basis of Rett syndrome to ascertain pathophysiology.

Yang H et al.

Neurobiology of Learning and Memory, 2019

Transcriptome level analysis in Rett syndrome using human samples from different tissues.

Shovlin S et al.

Orphanet Journal of Rare Diseases, 2018

Thyroid function in Rett syndrome.

Stagi S et al.

Hormone Research in Paediatrics, 2015

Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.

Kucukkal TG et al.

International Journal of Molecular Sciences, 2014

Genetic basis of Rett syndrome.

Van den Veyver IB et al.

Mental Retardation and Developmental Disabilities Research Reviews, 2002

Rett syndrome: a surprising result of mutation in MECP2.

Dragich J et al.

Human Molecular Genetics, 2000

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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."