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1 records shown · first 60A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.
PMID 18774132 | DOI 10.1016/j.atherosclerosis.2008.07.026 · Atherosclerosis · 2009 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg105Cys | “In the single patient of Family 1, sequencing of the candidate gene, SLC2A10, identified a novel missense c.313C>T mutation encoding a p.Arg105Cys substitution in the second extracellular domain of GLUT10.” | 0.95 | hgvs_regex_v1 |
| gene | SLC2A10 | “A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “We describe seven patients of two unrelated Saudi Arabian families who display tortuosity, dilatation and stenosis of arteries, pulmonary hypertension and other cardiovascular manifestations.” | 0.95 | saudi_context_rules_v1 |