Varaico: Literature-Extracted Genetic Variants

Gene:RPL39
Variant:p.R11Q
Back to variants list

RPL39

NM_001000.4:p.R11Q

Associated Papers

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

de Leeuw N et al.

American Journal of Medical Genetics. Part A, 2010

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."