Varaico: Literature-Extracted Genetic Variants

Gene:DNAAF5
Variant:p.E811Splc
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DNAAF5

NM_017802.4:p.E811Splc

Associated Papers

The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.

Horani A et al.

Jci Insight, 2023

37104040 (PubMed )
Supplement: jciinsight-8-168836-s124.pdf

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

Diggle CP et al.

Plos Genetics, 2014

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."