Upstream ORF frameshift variants in the PAX6 5'UTR cause Congenital Aniridia. Filatova AY, Vasilyeva TA, Marakhonov AV, Sukhanova NV, et al. Hum Mutat 2021 Jun 26. doi: 10.1002/humu.24248.

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Amedeo Smart

Independent Medical Education

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Filatova AY, Vasilyeva TA, Marakhonov AV, Sukhanova NV, et al. Upstream ORF frameshift variants in the PAX6 5'UTR cause Congenital Aniridia. Hum Mutat 2021 Jun 26. doi: 10.1002/humu.24248.
PMID: 34174135