Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF5
Variant:p.V502L
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ARHGEF5

NM_005435.4:p.V502L

Associated Papers

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects.

Loges NT et al.

American Journal of Human Genetics, 2018

30471718 (PubMed )
Supplement: mmc1.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."