Varaico: Literature-Extracted Genetic Variants

Gene:ODAD1
Variant:p.A199V
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ODAD1

NM_144577.4:p.A199V

Associated Papers

Identification of a CCDC114 variant in a Han-Chinese patient with situs inversus.

Chen X et al.

Experimental and Therapeutic Medicine, 2020

CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease.

Li P et al.

Journal of Human Genetics, 2019

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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."