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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
Spinal muscular atrophy
45articles
45mentions
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 homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
PMID 24498607 | PMCID PMC3865576 | DOI 10.1002/mgg3.10 · Molecular genetics & genomic medicine · 2013 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | spinal muscular atrophy | “A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | c.662C>T | “We report a patient with SMA who is homozygous for two mutations carried in cis: an 8 bp duplication (c.48_55dupGGATTCCG; p.Val19fs*24) and a point mutation (c.662C>T; p.Pro221Leu).” | 0.95 | hgvs_regex_v1 |
| gene | SMN1 | “A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.” | 0.98 | hgnc_dict_v1 |
| population | Population | “The consanguineous parents carry the same two mutations within one SMN1 gene copy.” | 0.80 | saudi_context_rules_v1 |