Varaico: Literature-Extracted Genetic Variants

Gene:TOPORS
Variant:p.Y836C
Back to variants list

TOPORS

NM_005802.5:p.Y836C

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_s004.xlsx › Sheet1

Prominent Optic Disc Featured in Inherited Retinopathy.

Todorova MG et al.

Klinische Monatsblatter Fur Augenheilkunde, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."