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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PLEK

Variant:p.G306delFs

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PLEK

NM_002664.3:p.G306delFs

hg38:chr2:68395680 GC>G

Associated Papers

Potential protein-phenotype correlation in three lipopolysaccharide-responsive beige-like anchor protein-deficient patients.

Tang WJ et al.

World Journal of Clinical Cases, 2021

34368306 (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."