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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL18A1

Variant:p.G405D

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COL18A1

NM_001379500.1:p.G405D

hg38:chr21:45477958 G>A

Associated Papers

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G et al.

Nature Cell Biology, 2015

26167768 (PubMed )

Supplement: NIHMS63737-supplement-Legends.docx

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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."