Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.L46Q
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PAX6

NM_001368894.2:p.L46Q

Associated Papers

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.

Jiang Y et al.

Investigative Ophthalmology & Visual Science, 2024

39212610 (PubMed )
Supplement: iovs-65-10-46_s006.pdf

Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene.

Andhika NS et al.

European Journal of Human Genetics : Ejhg, 2024

38849599 (PubMed )
Supplement: 41431_2024_1638_MOESM2_ESM.xlsx › Suppl-Table-2a
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