Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.A32Splc
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SPATA7

NM_018418.5:p.A32Splc

Associated Papers

Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.

Galieva A et al.

International Journal of Molecular Sciences, 2025

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

29178642 (PubMed )
Supplement: MGG3-5-652-s003.pdf
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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."