Rare Genetic Syndrome in a Palestinian Infant Traced to a Never-Before-Seen GLI3 Mutation
Researchers report a previously unrecorded de novo GLI3 frameshift variant in a Palestinian infant with Pallister-Hall syndrome, offering new diagnostic ...
Tag: de novo variant
Autism Gene Variants Rewire Synapses and Sleep in Distinct Ways, Fly Study Reveals
A new fruit fly study shows that different NLGN3 autism variants disrupt synapse structure, vesicle dynamics, and sleep in distinct ...
Rett Syndrome Without MECP2: Single Gene Variant Rewrites the Diagnostic Story
Swedish researchers report that a de novo variant in the GABBR2 gene, which encodes a GABA-B receptor subunit, caused classic ...
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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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