Varaico: Literature-Extracted Genetic Variants

Gene:TTC8
Variant:p.Q418R
Back to variants list

TTC8

NM_144596.4:p.Q418R

Associated Papers

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

Lindstrand A et al.

American Journal of Human Genetics, 2016

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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."