https://www.selleckchem.com/pr....oducts/gefitinib-bas
CONCLUSIONS Negative WES analyses inconsistent with the phenotype should raise clinical suspicion. Subsequent genetic testing may detect genetic variants missed by WES and can make patients eligible for gene replacement therapy and upcoming clinical trials. When phenotypic findings support a genetic etiology, negative WES results should be followed by targeted gene sequencing, array based approach or whole genome sequencing.BACKGROUND For the majority of rare clinical missense variants, pathogenicity status cannot curre
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