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1 records shown · first 60Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
PMID 40743267 | PMCID PMC12312935 | DOI 10.1371/journal.pone.0329008 · PloS one · 2025 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Arg83Cys | “No "genotype‒phenotype correlations" could be observed when the two common G6PC1 gene variants [p.(Arg83Cys) versus p.(Gln20Arg)] were compared.” | 0.95 | hgvs_regex_v1 |
| gene | G6PC1 | “The most common founder variant is P.(Arg83Cys) in the G6PC1 gene (20% of the 65 GSD patients), clustering in Aseer Province.” | 0.98 | hgnc_dict_v1 |
| phenotype | glycogen storage disease | “Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “Six patients underwent liver transplantation (due to difficulty controlling hypoglycemia in 5 GSD Ia patients and severe portal hypertension in one GSD IV patient).” | 0.98 | phenotype_alias_lexicon_v2 |