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QuickView for heterozygote detection


Curated Studies

Most Correlated Studies

  1. Pro-B cells with conditional deletion of Ebf1 allele from fetal liver of mice with flanked
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Literature

Most Relevant Literature

  1. Wilson's disease in two consecutive generations: the detection of three mutated alleles in the ATP7B…
  2. Accurate tracking genetic markers in haemophilia linkage analysis: a matter beyond scientific priori…
  3. Management of familial heterozygous hypercholesterolaemia. Position paper of the Polish Lipid Expert…
  4. Early visual memory deficits: a neuropsychological marker of GBA mutations in PD?
  5. Weighted pooling--practical and cost-effective techniques for pooled high-throughput sequencing.
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Clinical Trials

Most Relevant Clinical Trials

  1. Detection of Unsuspected Small Airways Obstruction in Cystic Fibrosis
  2. Primary Nasal Cell Culture as a Tool for Personalized Therapy in Cystic Fibrosis
  3. HR-HPV Multi-site Opportunistic Screening in Liaoning, China
  4. Fabry and Cardiomyopathy (FaCard)
  5. Biomarker for Patients With Fabry Disease (BioFabry)
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