Varaico: Literature-Extracted Genetic Variants

Gene:RDH12
Variant:p.R95Q
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RDH12

NM_152443.3:p.R95Q

Associated Papers

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

Gong X et al.

Investigative Ophthalmology & Visual Science, 2025

40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Hitti-Malin RJ et al.

Biomolecules, 2024

38540785 (PubMed )
Supplement: biomolecules-14-00367-s001.zip › Supplementary_Table_S2-Possibly_and_very_likely_solved_probands.xlsx › Sheet1

VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.

Leoni G et al.

Vaccines, 2021

34452005 (PubMed )
Supplement: vaccines-09-00880-s001.zip › SupplementaryTable1.xlsx › 3903
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