Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.Q538*
Back to variants list

BCOR

NM_001123385.2:p.Q538*

Associated Papers

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome.

Fan J et al.

American Journal of Ophthalmology Case Reports, 2024

Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia.

Li M et al.

Blood, 2011

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."