Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.R4120H
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USH2A

NM_206933.4:p.R4120H

Associated Papers

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.

Vlachavas EI et al.

Molecular Oncology, 2025

39876058 (PubMed )
Supplement: MOL2-19-1751-s014.xlsx › Sheet_1

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Perea-Romero I et al.

Human Genetics, 2021

34448047 (PubMed )
Supplement: 439_2021_2343_MOESM2_ESM.xlsx › Suppl_Table_S7
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