Varaico: Literature-Extracted Genetic Variants

Gene:PROM1
Variant:p.Q67*
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PROM1

NM_006017.3:p.Q67*

Associated Papers

Longitudinal study in autosomal recessive PROM1 inherited retinal disease.

Yates WB et al.

Ophthalmic Genetics, 2025

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.

Cehajic-Kapetanovic J et al.

Jama Network Open, 2019

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J et al.

Scientific Reports, 2018

29555955 (PubMed )
Supplement: 41598_2018_22096_MOESM1_ESM.pdf
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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."