Varaico: Literature-Extracted Genetic Variants

Gene:SPATA7
Variant:p.R343K
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SPATA7

NM_018418.5:p.R343K

Associated Papers

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.

Hull S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

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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."