Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.S185G
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BCOR

NM_001123385.2:p.S185G

Associated Papers

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.

Langouët M et al.

Science Advances, 2022

In a multi-institutional cohort of myeloid sarcomas, NFE2 mutation prevalence is lower than previously reported.

Anekpuritanang T et al.

Blood Advances, 2021

34559205 (PubMed )
Supplement: advancesADV2021004983-suppl1.pdf
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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."