Homo sapiens paired box 6 (PAX6), transcript variant 35, mRNA

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Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia. [Clin Dysmorphol. 2024]
Novel and recurrent variants in PAX6 in four patients with ocular phenotypes from Southeast Asia.
Goh J, Wei H, Lai AHM, Chang B, Khan S, Syn Y, Jamuar SS, Tan EC. Clin Dysmorphol. 2024 Apr 1; 33(2):63-68. Epub 2024 Feb 28.
Reduction of lens size in PAX6-related aniridia. [Exp Eye Res. 2024]
Reduction of lens size in PAX6-related aniridia.
Duncan MK, Daruich A, Valleix S, Bremond-Gignac D. Exp Eye Res. 2024 Jan; 238:109746. Epub 2023 Dec 5.
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study. [Genes (Basel). 2023]
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Sukhanova NV, Minzhenkova ME, Shilova NV, Latyshova AA, Ginter EK, Kutsev SI, et al. Genes (Basel). 2023 Nov 4; 14(11). Epub 2023 Nov 4.

RefSeq protein product
See the reference protein sequence for paired box protein Pax-6 isoform g (NP_001355843.1).

Protein
Protein sequence from Nucleotide coding region
PubMed
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Nucleotide