Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.V413D
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PROM1

NM_006017.3:p.V413D

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

Clinical Characteristics and Genetic Variants in Taiwanese Patients With PROM1-Related Inherited Retinal Disorders.

Lin TY et al.

Investigative Ophthalmology & Visual Science, 2023

Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y et al.

Human Genetics, 2014

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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."