Associated Papers
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K et al.
Ophthalmic Genetics, 2022
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_s003.xlsx › Sheet1
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
Knowles MR et al.
American Journal of Human Genetics, 2013
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