Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.S1982fs
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ADGRV1

NM_032119.4:p.S1982fs

Associated Papers

High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.

Fuster-García C et al.

Scientific Reports, 2018

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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."