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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DNAH5

Variant:p.E3618fs

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DNAH5

NM_001369.3:p.E3618fs

hg38:chr5:13753253 TTC>N

Associated Papers

A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies.

Liu Z et al.

Science Translational Medicine, 2020

32188719 (PubMed )

Supplement: aay0071_data_file_s1.xlsx › PCD

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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."