Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.R32delFs
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ATM

NM_000051.4:p.R32delFs

Associated Papers

Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.

Cirillo E et al.

European Journal of Neurology, 2018

Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task.

Quarantelli M et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia.

Broccoletti T et al.

European Journal of Neurology, 2011

Large genomic mutations within the ATM gene detected by MLPA, including a duplication of 41 kb from exon 4 to 20.

Cavalieri S et al.

Annals of Human Genetics, 2008

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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."