Varaico: Literature-Extracted Genetic Variants

Gene:SGO2
Variant:p.E485fs
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SGO2

NM_152524.6:p.E485fs

Associated Papers

New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.

Faridi R et al.

Human Genetics, 2022

Digenic inheritance and genetic modifiers.

Deltas C

Clinical Genetics, 2018

Mutations of SGO2 and CLDN14 collectively cause coincidental Perrault syndrome.

Faridi R et al.

Clinical Genetics, 2017

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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."