Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.A313D
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SPATA7

NM_018418.5:p.A313D

Associated Papers

Lack of phenotypic effect of triallelic variation in SPATA7 in a family with Leber congenital amaurosis resulting from CRB1 mutations.

Li L et al.

Molecular Vision, 2011

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family.

Feldhaus B et al.

Ophthalmic Genetics, 0

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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."