Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R256_L257ins1
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PAX6

NM_001368894.2:p.R256_L257ins1

Associated Papers

Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330).

Devriendt K et al.

Human Genetics, 1998

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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."