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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IPO5

Variant:p.L217S

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IPO5

NM_002271.6:p.L217S

hg38:chr13:97990518 T>C

Associated Papers

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.

Karolak JA et al.

Molecular Vision, 2011

21527998 (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."