P2RX2 exon-2 indel disrupts splicing and reduces receptor output in one DFNA41 family
A single-family functional study found that a heterozygous P2RX2 exon-2 insertion-deletion caused aberrant splicing and reduced P2X2 output, supporting a ...
Tag: loss-of-function
CRISPR frame-restoring edit revives lost tomato gene and boosts fruit nutrition
Researchers used a temperature-tolerant LbCas12a genome editing system to restore the reading frame of a loss-of-function SlGLK2 allele in tomato, ...
Single Potassium Channel Mutation Rewrites the Rules of a Rare Neurological Gene
A novel KCNA1 variant found in a teenager with autism and tremor produces an unprecedented mixed loss- and gain-of-function defect ...
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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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