Associated Papers
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
35579903 (PubMed )
Supplement: iovs-63-5-19_s004.xlsx › Sheet1
Machine Learning-Based Approach Highlights the Use of a Genomic Variant Profile for Precision Medicine in Ovarian Failure.
Henarejos-Castillo I et al.
Journal of Personalized Medicine, 2021
34199109 (PubMed )
Supplement: jpm-11-00609-s001.zip › jpm-1233323-supplementary.pdf
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C et al.
Ophthalmic Genetics, 2009
Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.
Bowne SJ et al.
Molecular Vision, 2008
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