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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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218articles
218mentions
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 60

Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS).

PMID 39398597 | PMCID PMC11470312 | DOI 10.62347/QRIF7244 · American journal of translational research · 2024 · 31 validated mentions
TypeEntitySource evidenceConfidenceExtractor
phenotypeprostate cancer“Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS).”0.98phenotype_alias_lexicon_v2
variantc.5347A>T“For the BRCA2 gene, one pathogenic mutation, c.6275_6276del (p.Val2092fs), was detected in 10 patients, and four benign mutations, c.5347A>T (p.Met1783Leu), c.5198A>G (p.Asp1733Gly), c.5158A>G (p.Thr1720Ala), and c.5117G>C (p.Gly1706Ala), were found in 17, 21, 34, and 12 patients, respectively.”0.95hgvs_regex_v1
geneBRCA1“RESULTS: Our study identified genetic mutations in BRCA1, BRCA2, TP53, and PMS2.”0.98hgnc_dict_v1
geneBRCA2“RESULTS: Our study identified genetic mutations in BRCA1, BRCA2, TP53, and PMS2.”0.98hgnc_dict_v1