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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PAX6

Variant:p.L257P

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PAX6

NM_001368894.2:p.L257P

hg38:chr11:31794069 A>G

Associated Papers

PAX6 disease models for aniridia.

Abdolkarimi D et al.

Indian Journal of Ophthalmology, 2022

36453299 (PubMed )

New horizons in aniridia management: Clinical insights and therapeutic advances.

Gour A et al.

Taiwan Journal of Ophthalmology, 0

38249501 (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."