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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PROM1

Variant:p.Y452*

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PROM1

NM_006017.3:p.Y452*

hg38:chr4:16006636 G>T

Associated Papers

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Jespersgaard C et al.

Scientific Reports, 2019

30718709 (PubMed )

Supplement: 41598_2018_38007_MOESM2_ESM.xlsx › Ark1

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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."