Varaico: Literature-Extracted Genetic Variants

Gene:GABRA6
Variant:p.T187M
Back to variants list

GABRA6

NM_000811.3:p.T187M

Associated Papers

A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4.

Mohamadian M et al.

Journal of Clinical Laboratory Analysis, 2020

33079427 (PubMed )
Supplement: JCLA-34-e23484-s001.xlsx › Sheet2

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094

Two classes of intrahepatic cholangiocarcinoma defined by relative abundance of mutations and copy number alterations.

Kim YH et al.

Oncotarget, 2016

27009864 (PubMed )
Supplement: oncotarget-07-23825-s001.pdf

Rare variants in neuronal excitability genes influence risk for bipolar disorder.

Ament SA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.

Ferraro TN et al.

Epilepsy & Behavior : E&b, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."