Varaico: Literature-Extracted Genetic Variants

Gene:UBE3A
Variant:p.Q342*
Back to variants list

UBE3A

NM_130839.5:p.Q342*

Associated Papers

Loss of PHF6 leads to aberrant development of human neuron-like cells.

Fliedner A et al.

Scientific Reports, 2020

33149206 (PubMed )
Supplement: 41598_2020_75999_MOESM1_ESM.pdf
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."