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Open AccessThird-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia
Thalassemias represent some of the most common monogenic diseases worldwide and are caused by variations in human hemoglobin genes which disrupt the balance of synthesis between the alpha and beta globin chain...
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Open AccessA Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China
To discuss combinations of traditional screening and noninvasive prenatal screening (NIPS) and to compare which traditional screening is the most suitable first-line screening approach to NIPS, pregnant women ...
