Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.Q123*
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SPATA7

NM_018418.5:p.Q123*

Associated Papers

Whole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.

Basdemirci M et al.

Molecular Syndromology, 2024

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

Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.

Li L et al.

Plos One, 2011

21602930 (PubMed )
Supplement: pone.0019458.s006.xls › Sheet1
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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."