Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.R2377Q
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ADGRV1

NM_032119.4:p.R2377Q

Associated Papers

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon.

Jaffal L et al.

Frontiers in Genetics, 2022

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L et al.

Orphanet Journal of Rare Diseases, 2015

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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."