Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC2
Variant:p.A143T
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EXOSC2

NM_014285.7:p.A143T

Associated Papers

Humanized Saccharomyces cerevisiae provides a facile and effective tool to identify damaging human variants that cause exosomopathies.

Ahammed KS et al.

G3 (bethesda, Md.), 2025

Short stature, hearing loss, retinitis pigmentosa, and distinctive facies syndrome: A case report.

Reeves A et al.

American Journal of Medical Genetics. Part A, 2022

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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."