Literature record
Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.
PMID 41246981 | DOI 10.1097/MCD.0000000000000543 · Clinical dysmorphology · 2026 · View on PubMed ↗
Source-grounded extraction
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | MAN1B1 | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | saudi_context_rules_v1 |
| variant | c.1118C>G | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | hgvs_regex_v1 |
| variant | p.Pro373Arg | “Rafiq syndrome in a Saudi patient: novel homozygous MAN1B1 variant (c.1118C>G; p.Pro373Arg) and expanded phenotypic spectrum.” | 0.95 | hgvs_regex_v1 |