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Combine gene, variant, phenotype, region and year filters

Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.

Transparent by designEvery result links extracted entities to its source sentence and publication identifier.

Publications

1 records shown · first 60
TypeEntitySource evidenceConfidenceExtractor
variantrs149572881“Two common variants PON1 (rs662) and C5L2 (rs149572881) were genotyped using polymerase chain reaction followed by restriction fragment length polymorphism analysis.”0.90hgvs_regex_v1
geneG6PD“OBJECTIVES: To investigate the role of amino acid substitution variants Q192R and C698T in the development of glucose-6-phosphate dehydrogenase (G6PD) deficiency in a Saudi male population.”0.98hgnc_dict_v1
genePON1“Two common variants PON1 (rs662) and C5L2 (rs149572881) were genotyped using polymerase chain reaction followed by restriction fragment length polymorphism analysis.”0.98hgnc_dict_v1
phenotypeglucose-6-phosphate dehydrogenase deficiency“Genetic polymorphisms in paraoxonase 1 and G protein-coupled receptor 77, and the risk of glucose-6-phosphate dehydrogenase deficiency in a Saudi population.”0.98phenotype_alias_lexicon_v2