Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.K145_K149insFs
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SYNGAP1

NM_006772.3:p.K145_K149insFs

Associated Papers

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.

Mayo S et al.

International Journal of Molecular Sciences, 2021

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.

Cowley MJ et al.

Human Mutation, 2019

SYNGAP1 heterozygosity disrupts sensory processing by reducing touch-related activity within somatosensory cortex circuits.

Michaelson SD et al.

Nature Neuroscience, 2018

30455457 (PubMed )
Supplement: NIHMS1508741-supplement-Sup_Table_2.xlsx › Supplemental_Table_2
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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."