Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.V560fs
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SYNGAP1

NM_006772.3:p.V560fs

Associated Papers

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

Prchalova D et al.

Bmc Medical 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."