Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.K1989insFs
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ADGRV1

NM_032119.4:p.K1989insFs

Associated Papers

Racial and ethnic disparities in diagnostic efficacy of comprehensive genetic testing for sensorineural hearing loss.

Florentine MM et al.

Human Genetics, 2022

34515852 (PubMed )
Supplement: 439_2021_2338_MOESM2_ESM.xlsx › All_variants

Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.

Qian X et al.

Frontiers in Genetics, 2021

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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."