Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.K671*
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PROM1

NM_006017.3:p.K671*

Associated Papers

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.

Wang F 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."