Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.R1030Q
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TOPORS

NM_005802.5:p.R1030Q

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS16_het

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

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."