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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:P4HA2

Variant:p.R519*

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P4HA2

NM_001017974.2:p.R519*

hg38:chr5:132193057 G>A

Associated Papers

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.

Haarman AEG et al.

Ophthalmology Science, 2023

37250922 (PubMed )

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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."