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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
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2 records shown · first 60A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.
PMID 32514656 | DOI 10.1007/s10875-020-00800-y · Journal of clinical immunology · 2020 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.265G>A | “Genetic study revealed a homozygous missense mutation c.265G>A in the PNP gene, resulting in a substitution of glutamic acid to lysine at amino acid 89 of the encoded protein (E89K).” | 0.95 | hgvs_regex_v1 |
| gene | PNP | “BACKGROUND: Purine nucleoside phosphorylase (PNP) deficiency accounts for about 4% of severe combined immunodeficiency diseases.” | 0.98 | hgnc_dict_v1 |
| phenotype | lymphoma | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | systemic lupus erythematosus | “A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma.” | 0.98 | phenotype_alias_lexicon_v2 |
SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.
PMID 28753187 | DOI 10.1097/MPG.0000000000001694 · Journal of pediatric gastroenterology and nutrition · 2018 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.265G>A | “Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q).” | 0.95 | hgvs_regex_v1 |
| gene | SLC5A1 | “SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption. We present clinical and molecular data from 16 unrelated cGGM diagnosed Saudi patients from consanguineous families with majority of them having previous positive family history of cGGM.” | 0.95 | saudi_context_rules_v1 |
| variant | p.G89R | “Two mutations are novel; c.265G>A (p.G89R) and c.1304 G>A (p.G435D), and 2 have been previously reported to cause cGGM, c.765 C>G (p.C255W) and c.1136 G>A (p.R379Q).” | 0.95 | hgvs_regex_v1 |