Varaico: Literature-Extracted Genetic Variants

Gene:INPP5E
Variant:p.R592G
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INPP5E

NM_019892.6:p.R592G

Associated Papers

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa.

Whiting KR et al.

European Journal of Human Genetics : Ejhg, 2024

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

Sangermano R et al.

Npj Genomic Medicine, 2021

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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."