Loss-of-Function CD99L2 Variants Trigger X-Linked Ataxia
In a groundbreaking study destined to reshape the understanding of hereditary neurodegenerative disorders, researchers have identified loss-of-function variants in the ...
Tag: pathogenic variants identification
Early Detection of Rare Genetic Disorders Enabled by ‘Genomic-First’ Approach
In a groundbreaking study that challenges the conventional diagnostic paradigm for rare genetic disorders (RGDs), researchers at Geisinger have pioneered ...
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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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