Varaico: Literature-Extracted Genetic Variants

Gene:ITPKB
Variant:p.L377L
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ITPKB

NM_002221.4:p.L377L

Associated Papers

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly).

Hoffmann K et al.

Nature Genetics, 2002

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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."