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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELN

Variant:p.A445delFs

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ELN

NM_000501.4:p.A445delFs

hg38:chr7:74056688 AG>A

Associated Papers

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series.

Hardin JS et al.

Ophthalmic Genetics, 0

28726533 (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."