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Article

Identification of an individual with a SYGNAP1 pathogenic mutation in India.

Molecular biology reports - 1 Nov 2020

Verma Vijaya, Mandora Amit, Botre Abhijeet, Clement James P

Abstract excerpt

Exome sequencing is a prominent tool to identify novel and deleterious mutations which could be non-sense, 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 rare diseases that are detrimental to the...

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PMID: 33090308
DOI: 10.1007/s11033-020-05915-4

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Identification of an individual with a SYGNAP1 pathogenic mutation in India.PMID 33090308Read ↗

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