Varaico: Literature-Extracted Genetic Variants

Gene:ADGRV1
Variant:p.M5890fs
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ADGRV1

NM_032119.4:p.M5890fs

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Prevalence of Molecular Diagnoses for Usher Syndrome and the Need for Coordinated Care.

Colbert BM et al.

The Laryngoscope, 2025

39560289 (PubMed )
Supplement: LARY-135-1777-s002.pdf

Non-USH2A mutations in USH2 patients.

Besnard T et al.

Human Mutation, 2012

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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."