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1 records shown · first 60Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
PMID 31607425 | PMCID PMC6848997 | DOI 10.1016/j.ajhg.2019.09.013 · American journal of human genetics · 2019 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg321Gln | “In a Pakistani family, the IQSEC1 segregating variant is c.1028C>T (p.Thr343Met), while in a Saudi Arabian family the variant is c.962G>A (p.Arg321Gln).” | 0.95 | hgvs_regex_v1 |
| gene | IQSEC1 | “Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.” | 0.98 | hgnc_dict_v1 |
| gene | ARF6 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.” | 0.98 | phenotype_alias_lexicon_v2 |