Case report identifies likely pathogenic COL1A1 variant in pediatric bone fragility
A multigenerational case report identified a previously unreported likely pathogenic COL1A1 frameshift variant in a 13-year-old boy with blue sclerae ...
Tag: genetic variant
Novel homozygous FRRS1L variant reported in Chinese girl with DEE37-related symptoms
A single-patient case report documents a novel homozygous FRRS1L variant in a Chinese girl with developmental delay, epilepsy, movement abnormalities, ...
Genetic Switch in Breast Milk: Indonesian Study Redefines Secretor Status Cut-Off
A new Indonesian study links maternal FUT2 genetics to breast milk sugar profiles and proposes a dramatically higher cut-off for ...
Common Gene Variant May Blunt Asthma Drug Response in Children During Viral Illness
A study in the Journal of Allergy and Clinical Immunology finds that children carrying a common SERPINE1 gene variant may ...
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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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