Varaico: Literature-Extracted Genetic Variants

Gene:LDB3
Variant:p.R273H
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LDB3

NM_007078.3:p.R273H

Associated Papers

SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisis.

Bögershausen N et al.

Jci Insight, 2025

40131364 (PubMed )
Supplement: jciinsight-10-173484-s116.xlsx › Tabelle1

TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.

da Silva EM et al.

Npj Breast Cancer, 2021

33863915 (PubMed )
Supplement: 41523_2021_250_MOESM1_ESM.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."