Novel De Novo MTM1 Frameshift Variant Drives Severe Muscle Disease in a Young Chinese Woman
A novel de novo MTM1 frameshift variant has been identified in a Chinese woman with lifelong progressive muscle weakness, expanding ...
Tag: frameshift variant
Novel KRIT1 Gene Variant Linked to Severe Pediatric Familial Brain Vessel Malformations
Researchers have identified a novel KRIT1 initiation-region frameshift variant in a pediatric family whose members range from asymptomatic lesion carriers ...
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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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