
SYNGAP1-Related Disorders - Children's Hospital of Philadelphia
When a disorder is traced back to a pathogenic variant in the SYNGAP1 gene, it is called a SYNGAP1 -related disorder. In many children with SYNGAP1 -related disorders, delays in …
SYNGAP1-related intellectual disability - MedlinePlus
SYNGAP1 -related intellectual disability is a neurological disorder characterized by moderate to severe intellectual disability that is evident in early childhood. The earliest features are typically …
SYNGAP1-Related Disorder - Child Neurology Foundation
SYNGAP1-related disorder is a genetic disorder that leads to seizures and developmental problems. The gene that causes the disorder is called SYNGAP1. Certain variants, also called …
Syngap1 Foundation
The SYNGAP1 Foundation stands as a pioneering force, holding the distinction of being the world's first organization dedicated to propelling research initiatives for the betterment of …
What are SYNGAP1-Related Disorders? - Syngap Research Fund
SYNGAP1 -related disorders (SRD) are rare genetic disorders caused by a variant on the SYNGAP1 gene. The SYNGAP1 gene is located on Chromosome 6 and is responsible for …
SYNGAP1 -Related Intellectual Disability - National Center for ...
2019年2月21日 · SYNGAP1 -related intellectual disability (SYNGAP1- ID) is characterized by developmental delay (DD) or intellectual disability (ID) (100% of affected individuals), …
SynGAP regulates synaptic plasticity and cognition ... - Science
SynGAP is an abundant synaptic GTPase-activating protein (GAP) critical for synaptic plasticity, learning, memory, and cognition. Mutations in SYNGAP1 in humans result in intellectual …
SYNGAP1 gene - MedlinePlus
The SYNGAP1 gene provides instructions for making a protein, called SynGAP, that plays an important role in nerve cells in the brain. Learn about this gene and related health conditions.
yanyew/SynGAP - GitHub
SynGAP (Synteny-based Gene Structure Annotation Polisher) is a command-line software written in Python3, suitable for Linux operating systems. And we provides the image that can be used …
SYNGAP1 - Mencap
SYNGAP1 is a rare genetic condition that causes learning disabilities. It affects both boys and girls and generally occurs randomly. SYNGAP1 often causes seizures, language delays, …
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