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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAAF5

Variant:p.S817delFs

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DNAAF5

NM_017802.4:p.S817delFs

hg38:chr7:785534 AG>A

Associated Papers

An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.

Shamseldin HE et al.

Human Genetics, 2020

32367404 (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."