Varaico: Literature-Extracted Genetic Variants

Gene:SZT2
Variant:p.A560S
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SZT2

NM_001365999.1:p.A560S

Associated Papers

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

Calhoun JD et al.

Brain : a Journal of Neurology, 2022

A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.

Ganesan S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32773773 (PubMed )
Supplement: 41436_2020_923_MOESM3_ESM.xls › Table_S3a
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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."