Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.V7Splc
Back to variants list

SPATA7

NM_018418.5:p.V7Splc

Associated Papers

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

Mackay DS et al.

Investigative Ophthalmology & Visual Science, 2011

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."