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Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Int J Mol Sci. 2021 Feb 21;22(4):2133. doi: 10.3390/ijms22042133.
Int J Mol Sci. 2021.
PMID: 33669941
Free PMC article.
Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a Novel GSN Variant p.Glu580Lys.
Potrč M, Volk M, de Rosa M, Pižem J, Teran N, Jaklič H, Maver A, Drnovšek-Olup B, Bollati M, Vogelnik K, Hočevar A, Gornik A, Pfeifer V, Peterlin B, Hawlina M, Fakin A.
Potrč M, et al.
Int J Mol Sci. 2021 Jan 22;22(3):1084. doi: 10.3390/ijms22031084.
Int J Mol Sci. 2021.
PMID: 33499149
Free PMC article.
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Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush.
Fakin A, Bonnet C, Kurtenbach A, Mohand-Said S, Zobor D, Stingl K, Testa F, Simonelli F, Sahel JA, Audo I, Zrenner E, Hawlina M, Petit C.
Fakin A, et al.
Int J Mol Sci. 2021 Sep 26;22(19):10352. doi: 10.3390/ijms221910352.
Int J Mol Sci. 2021.
PMID: 34638692
Free PMC article.
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