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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRICKLE3

Variant:p.H48_R53del0

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PRICKLE3

NM_006150.5:p.H48_R53del0

hg38:chrX:49183887 CCGCGGGCATTTGCAA>C

Associated Papers

PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.

Yu J et al.

The Journal of Clinical Investigation, 2020

32516135 (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."