Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.V2288F
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ADGRV1

NM_032119.4:p.V2288F

Associated Papers

Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes.

Feenstra HM et al.

Genes, 2022

36011334 (PubMed )
Supplement: genes-13-01423-s001.zip › genes-1827009-supplementary.pdf

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D et al.

Journal of Human Genetics, 2009

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