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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PITX3

Variant:p.*303L

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PITX3

NM_005029.4:p.*303L

hg38:chr10:102230515 C>A

Associated Papers

Pathogenic genetic variants identified in Australian families with paediatric cataract.

Jones JL et al.

Bmj Open Ophthalmology, 2022

36161833 (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."