Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.G12V
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PAX6

NM_001368894.2:p.G12V

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

Mutational landscape of K-Ras substitutions at 12th position-a systematic molecular dynamics approach.

S UK et al.

Journal of Biomolecular Structure & Dynamics, 2022

Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation Society.

Stanley CM et al.

Human Mutation, 2014

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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."