Varaico: Literature-Extracted Genetic Variants

Gene:LBR
Variant:p.G563Splc
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LBR

NM_002296.4:p.G563Splc

Associated Papers

Novel lamin B receptor mutation (c.561C > G) in a patient with Pelger-Huët anomaly: a case report.

Yin J et al.

Frontiers in Pediatrics, 2025

Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.

Xiang J et al.

Orphanet Journal of Rare Diseases, 2024

39252126 (PubMed )
Supplement: 13023_2024_3340_MOESM3_ESM.xlsx › Sheet1
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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."