Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.M1I
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SPATA7

NM_018418.5:p.M1I

Associated Papers

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

Kannabiran C

Ophthalmic Genetics, 2020

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Eisenberger T et al.

Plos One, 2013

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Perrault I et al.

Human Mutation, 2010

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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."