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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LMAN2L

Variant:p.S354fs

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LMAN2L

NM_001142292.2:p.S354fs

hg38:chr2:96707276 GCT>N

Associated Papers

Novel compound heterozygous mutations in LMAN2L cause early childhood refractory epilepsy.

Wang T et al.

Italian Journal of Pediatrics, 2025

40221759 (PubMed )

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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."