Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.L89_K90delFs
Back to variants list

SPATA7

NM_018418.5:p.L89_K90delFs

Associated Papers

The spermatogenesis-associated protein-7 (SPATA7) gene - an overview.

Kannabiran C

Ophthalmic Genetics, 2020

Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.

Xiao X et al.

Molecular Vision, 2019

Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family.

Mayer AK et al.

Molecular Vision, 2015

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."