Varaico: Literature-Extracted Genetic Variants

Gene:ATP10A
Variant:p.S836_L837delFs
Back to variants list

ATP10A

NM_024490.4:p.S836_L837delFs

Associated Papers

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

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."