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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPHB6

Variant:p.D161delFs

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EPHB6

NM_004445.6:p.D161delFs

hg38:chr7:142864281 GA>G

Associated Papers

Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature.

Rashu EB et al.

World Journal of Clinical Cases, 2020

32432142 (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."