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1 records shown · first 60SLC52A3-related Brown-Vialetto-Van Laere syndrome: a large cohort from the Arabian Peninsula.
PMID 42056474 | PMCID PMC13247244 | DOI 10.1038/s41431-026-02106-w · European journal of human genetics : EJHG · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg212Cys | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.95 | hgvs_regex_v1 |
| gene | SLC52A3 | “20 patients were homozygous for SLC52A3: c.634C>T (p.Arg212Cys) variant and 3 patients were homozygous for SLC52A3: c.1325_1326del.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “Facial diplegia was the commonest clinical feature (12/13), while moderate to severe hearing loss and dysarthria were seen in (10/13) patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “A total of 23 patients, 16 females and 7 males, with genetically confirmed BVVL diagnosis at two tertiary centers from the region were retrospectively reviewed.” | 0.80 | saudi_context_rules_v1 |