Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.S775delFs
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TOPORS

NM_001195622.2:p.S775delFs

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

Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.

Shen C et al.

Molecular Vision, 2022

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Martin-Merida I et al.

Investigative Ophthalmology & Visual Science, 2018

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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."