Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.A262Splc
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PROM1

NM_006017.3:p.A262Splc

Associated Papers

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Porto FBO et al.

Genes, 2017

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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."