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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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Phenotype
Osteogenesis imperfecta
27articles
27mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
1 records shown · first 60Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
PMID 32413570 | DOI 10.1016/j.ejmg.2020.103954 · European journal of medical genetics · 2020 · 10 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | osteogenesis imperfecta | “Biallelic variants in four genes underlying recessive osteogenesis imperfecta.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Gln133* | “The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.” | 0.95 | hgvs_regex_v1 |
| gene | SP7 | “The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.” | 0.98 | hgnc_dict_v1 |
| gene | SERPINF1 | “The two novel homozygous variants including [c.824G > A; p.(Cys275Tyr)] in the SP7 gene and [c.397C > T, p.(Gln133*)] in the SERPINF1 gene were identified in families A and B, respectively.” | 0.98 | hgnc_dict_v1 |