The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1
Váldodahkkit: | Yusuf, IH, Gliem, M, Birtel, J, Muller, PL, Mangold, E, Bolz, H, Issa, PC |
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Materiálatiipa: | Conference item |
Giella: | English |
Almmustuhtton: |
Association for Research in Vision and Ophthalmology
2018
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Geahča maid
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A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping
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