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An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
Curr Issues Mol Biol. 2023 Dec 22;46(1):96-105. doi: 10.3390/cimb46010008.
Curr Issues Mol Biol. 2023.
PMID: 38248310
Free PMC article.
[Inherited retinal dystrophy: first results of RPE65 gene replacement therapy in Russia].
Kadyshev VV, Zolnikova IV, Khalanskaya OV, Stepanova AA, Kutsev SI.
Kadyshev VV, et al. Among authors: khalanskaya ov.
Vestn Oftalmol. 2022;138(4):48-57. doi: 10.17116/oftalma202213804148.
Vestn Oftalmol. 2022.
PMID: 36004591
Russian.
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