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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EIF5B

Variant:p.E739delFs

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EIF5B

NM_015904.4:p.E739delFs

hg38:chr2:99382866 AG>A

Associated Papers

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M et al.

Human Genetics, 1997

9402976 (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."