Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.W2624*
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ADGRV1

NM_032119.4:p.W2624*

Associated Papers

Usher syndrome in Denmark: mutation spectrum and some clinical observations.

Dad S et al.

Molecular Genetics & Genomic Medicine, 2016

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Schultz JM et al.

Journal of Medical Genetics, 2011

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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."