Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q255_V256Splc
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PAX6

NM_000280.6:p.Q255_V256Splc

Associated Papers

Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.

Wang L et al.

Orphanet Journal of Rare Diseases, 2024

Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

Primignani P et al.

Ophthalmic Genetics, 2016

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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."