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Phenotype
Infertility
199articles
199mentions
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 novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.
PMID 42109071 | DOI 10.1017/S0967199426100409 · Zygote (Cambridge, England) · 2026 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | infertility | “A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Phe191Leu | “Clinical exome sequence was performed and revealed a novel homozygous variant in MOS (NM_005372.1):c.573C > A;p.(Phe191Leu).” | 0.95 | hgvs_regex_v1 |
| gene | MOS | “A novel MOS variant causes large polar body formation and parthenogenetic activation; case report of an unusual phenomenon leading to female infertility.” | 0.98 | hgnc_dict_v1 |