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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LNPK

Variant:p.G2insFs

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LNPK

NM_030650.3:p.G2insFs

hg38:chr2:175995579 A>AC

Associated Papers

Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPK.

Doss RM et al.

Hgg Advances, 2026

41204669 (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."