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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAAF5

Variant:p.Q694_I695Splc

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DNAAF5

NM_017802.4:p.Q694_I695Splc

hg38:chr7:774754 C>T

Associated Papers

Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis.

Shoemark A et al.

The European Respiratory Journal, 2022

35728977 (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."