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1 records shown · first 60A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.
PMID 30315519 | DOI 10.1007/s13258-018-0673-5 · Genes & genomics · 2018 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.9368G>A | “Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene.” | 0.95 | hgvs_regex_v1 |
| gene | SZT2 | “A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.” | 0.98 | hgnc_dict_v1 |
| phenotype | developmental delay | “A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.” | 0.98 | phenotype_alias_lexicon_v2 |