R202Q dominates MEFV variant spectrum in Eastern Black Sea suspected FMF cohort
A retrospective study of 611 individuals tested for suspected familial Mediterranean fever in Türkiye's Eastern Black Sea region found R202Q ...
Tag: ACMG/AMP
Computational predictions are not clinical evidence, researchers warn in CYLD variant dispute
A new comment argues that most CYLD variants flagged by computational analysis in a 2024 study lack sufficient evidence for ...
When One Gene Means Many Diseases: Multi-Disorder Genes Drive Lab Disagreement on Variant Pathogenicity
A national study of 128 clinical genetics laboratories finds that variants in multi-disease genes such as APOB, LZTR1, MYH7, and ...
New Dashboard Brings Protein Structure Into the Hunt for Disease-Causing Gene Variants
Researchers have developed ProtSAVI, an R-based dashboard that combines protein structure analysis with ACMG/AMP criteria to reclassify variants of uncertain ...
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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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