Title : Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Pub. Date : 2019 Nov 7

PMID : 31607425






1 Functional Relationships(s)
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Sentence
Compound Name
Protein Name
Organism
1 IQSEC1-3 encode guanine nucleotide exchange factors for the small GTPase ARF6 and their loss affects a variety of actin-dependent cellular processes, including AMPA receptor trafficking at synapses. Guanine Nucleotides ADP-ribosylation factor 6 Mus musculus