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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPIL1

Variant:p.A162delFs

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PPIL1

NM_016059.5:p.A162delFs

hg38:chr6:36855829 GC>G

Associated Papers

A novel mutation in LEPRE1 that eliminates only the KDEL ER- retrieval sequence causes non-lethal osteogenesis imperfecta.

Takagi M et al.

Plos One, 2012

22615817 (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."