Varaico: Literature-Extracted Genetic Variants

Gene:UBE2A
Variant:p.Q147*
Back to variants list

UBE2A

NM_003336.4:p.Q147*

Associated Papers

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Shangguan H et al.

European Journal of Pediatrics, 2024

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

Shangguan H et al.

Frontiers in Pediatrics, 2022

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."