Varaico: Literature-Extracted Genetic Variants

Gene:SYNGAP1
Variant:p.Y1198fs
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SYNGAP1

NM_006772.3:p.Y1198fs

Associated Papers

Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.

Jimenez-Gomez A et al.

Journal of Neurodevelopmental Disorders, 2019

31395010 (PubMed )
Supplement: 11689_2019_9276_MOESM1_ESM.xlsx › Sheet1

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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