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Browsing Tag

genetic variants

14 posts
GGenetics
Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1
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Novel Human Genetics Evidence Confirms Estimates of Genetic Prevalence, Underdiagnosis, and Potentially Greater Symptom Burden of Gain-of-Function CASR Variants Associated with ADH1

  • July 23, 2025
BridgeBio Pharma, Inc. – By examining over 100 unique variants associated with the CASR gene causative of ADH1,…
GGenetics
How researchers are mapping genetics in N.B. to detect inherited diseases sooner
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How researchers are mapping genetics in N.B. to detect inherited diseases sooner

  • July 20, 2025
Researchers at Vitalité Health Network imagine a health-care system where patients are screened early for a disorder or disease they inherited…
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