| PMID | PubMed URL | Seed claim summary (one line) | Evidence type |
|---|---|---|---|
| 25062452 | https://pubmed.ncbi.nlm.nih.gov/25062452/ | Homozygous nonsense SYCE1 variant (c.613C>T) reported in two affected sisters with primary amenorrhea/POI, with family segregation consistent with recessive inheritance. | Human genetics / clinical |
| 32402064 | https://pubmed.ncbi.nlm.nih.gov/32402064/ | Homozygous mutant model showed no detectable SYCE1 protein and markedly reduced transcript, supporting infertility via defective homologous chromosome synapsis. | Model organism / functional |
| 34718620 | https://pubmed.ncbi.nlm.nih.gov/34718620/ | SYCE1 variants were reported to disrupt interaction with SYCP1 or C14ORF39/SIX6OS1, impairing synaptonemal-complex assembly and meiosis in POI/NOA cases. | In vitro functional / human cohort |
| 35718780 | https://pubmed.ncbi.nlm.nih.gov/35718780/ | Two NOA patients with SYCE1 CNVs reportedly showed pachytene-stage spermatogenic arrest on H&E and immunofluorescence, consistent with meiotic defect. | Human genetics / histology |


*Table: This table lists the four seed publications, their PubMed links, the main mechanistic or clinical claim attributed to each, and the evidence type. It is useful as a concise manual-verification checklist for the SYCE1 curation workflow.*