Article

Novel de novo heterozygous mutation on SYNGAP1 from the Indian population

2020-01-28

Abstract excerpt

<title>Abstract</title> <p>Background : Exome sequencing is a prominent tool to identify novel and deleterious mutations which could be nonsense, frameshift, and canonical splice-site mutations in a specific gene. De novo mutations in SYNGAP1 , which codes for synaptic RAS-GTPase activating the protein, causes Intellectual disability (ID) and Autism Spectrum Disorder (ASD). SYNGAP1 related ASD/ID is one of the ra...

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Literature Corpus work: beefdb28-d7b4-5bb2-9614-592dcdd79f9a
DOI: 10.21203/rs.2.22020/v1

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