Novel IDUA variant confirmed in MPS I as embryo screening yields healthy child
A novel IDUA variant, c.1379T>C (p.Leu460Pro), has been linked to MPS I for the first time, and preimplantation genetic testing ...
Tag: ACMG guidelines
Epilepsy gene variants differ sharply between East Asian and European populations
A nucleotide-resolved analysis of ClinVar and gnomAD reveals seventeen epilepsy variants dramatically enriched in East Asian populations and shows the ...
Two Rare Blood Disorders in One Family: EPB41 Mutations and β-Thalassemia Unravel a Diagnostic Puzzle
A Chinese family case report reveals the rare co-inheritance of β-thalassemia and hereditary elliptocytosis, traced to EPB41 and HBB mutations ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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