Varaico: Literature-Extracted Genetic Variants

Gene:SART3
Variant:p.R519G
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SART3

NM_014706.4:p.R519G

Associated Papers

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.

Ayers KL et al.

Nature Communications, 2023

Therapeutic implications of activating noncanonical PIK3CA mutations in head and neck squamous cell carcinoma.

Jin N et al.

The Journal of Clinical Investigation, 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."