Associated Papers
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
35353811 (PubMed )
Supplement: pgen.1010129.s001.xlsx › Sheet1
A novel intronic mutation of PDE6B is a major cause of autosomal recessive retinitis pigmentosa among Caucasus Jews.
Tatour Y et al.
Molecular Vision, 2019
Gene panel sequencing in Brazilian patients with retinitis pigmentosa.
Costa KA et al.
International Journal of Retina and Vitreous, 2017
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1843.647
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