Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.T836_S837delFs
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UBE3A

NM_130839.5:p.T836_S837delFs

Associated Papers

Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.

McKnight D et al.

Jama Neurology, 2022

36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf

An Analysis of Phenotype and Genotype in a Large Cohort of Chinese Children with Angelman Syndrome.

Du X et al.

Genes, 2022

Screening of UBE3A gene in patients referred for Angelman Syndrome.

Tzagkaraki E et al.

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

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.

Tzagkaraki E et al.

Human Genetics, 2009

Novel UBE3A mutations causing Angelman syndrome: different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions.

Camprubí C et al.

American Journal of Medical Genetics. Part A, 2009

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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."