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Publications
1 records shown · first 60Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.
PMID 36578839 | PMCID PMC9789724 | DOI 10.7759/cureus.32899 · Cureus · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs80358230 | “Ser81Arg) variant (dbSNP: rs80358230) in this patient, which supports the clinical diagnosis of ATS.” | 0.90 | hgvs_regex_v1 |
| gene | SLC2A10 | “Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes (Entrez Gene: 81031) detected a homozygous pathogenic c.243C>G (p.” | 0.98 | hgnc_dict_v1 |
| variant | c.243C>G | “Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes (Entrez Gene: 81031) detected a homozygous pathogenic c.243C>G (p.” | 0.95 | hgvs_regex_v1 |