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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RSPH9

Variant:p.Y39*

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RSPH9

NM_152732.5:p.Y39*

hg38:chr6:43645215 C>A

Associated Papers

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

Watson CM et al.

Human Mutation, 2014

24307375 (PubMed )

Supplement: humu0035-0434-SD1.pdf

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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."