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TAPT1 and osteogenesis imperfecta are reported together in 1 article.
Gene
TAPT1
- HGNC
- HGNC:26887
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
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 60A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.
PMID 36652330 | PMCID PMC9906387 | DOI 10.15252/emmm.202216478 · EMBO molecular medicine · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | TAPT1 | “A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.” | 0.98 | hgnc_dict_v1 |
| phenotype | osteogenesis imperfecta | “Here, we illustrate this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and neonatal progeria syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |