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1 records shown · first 60Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.
PMID 37964750 | PMCID PMC10724519 | DOI 10.1002/mgg3.2184 · Molecular genetics & genomic medicine · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs121909192 | “The SNP rs121909192, which is a pathogenic risk factor, was found in 321/13500 (2.38%).” | 0.90 | hgvs_regex_v1 |
| gene | SMN1 | “BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations and deletions in SMN1 at exon 7.” | 0.98 | hgnc_dict_v1 |
| gene | SMN2 | “METHODS: We examined allelic, genotypic relatedness and copy number (CN) variations and frequencies of SMN1 and SMN2, in 13,426 samples from Qatar biobank (QBB) to provide a precise estimation of SMA carrier frequency in Qatar in comparison to other populations.” | 0.98 | hgnc_dict_v1 |
| phenotype | spinal muscular atrophy | “Studying carrier frequency of spinal muscular atrophy in the State of Qatar and comparison to other ethnic groups: Pilot study.” | 0.98 | phenotype_alias_lexicon_v2 |