Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.

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Title: Autosomal Dominant RP1 c.2613dupA (p.Arg872Thrfs*2) Variant Retinitis Pigmentosa Shows Linear Loss of the Ellipsoid Zone over Time with Highly Variable Phenotype.
Authors: Foa, Nastasia1,2 (AUTHOR), Pfau, Maximilian3,4 (AUTHOR), Ansari, Georg3,4 (AUTHOR), Cancian, Giuseppe1,2 (AUTHOR), Grimaldi, Gabriela1,2 (AUTHOR), Koller, Samuel5 (AUTHOR), Berger, Wolfgang5 (AUTHOR), Escher, Pascal6 (AUTHOR), Janeschitz-Kriegl, Lucas3,4 (AUTHOR), Rivolta, Carlo4 (AUTHOR), Scholl, Hendrik P.N.7,8,9 (AUTHOR), Menghini, Moreno1,2 (AUTHOR)
Source: Ophthalmologica. 2025, Vol. 248 Issue 3, p175-184. 10p.
Database: Academic Search Ultimate
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Description
ISSN:00303755
DOI:10.1159/000545606