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: minigene assay
Single case links deep intronic MFSD8 variant to CLN7 disease
A single-patient study showed that a deep intronic MFSD8 variant causes CLN7 disease by triggering abnormal pseudoexon inclusion that disrupts ...
Silent No More: Hidden PROS1 Mutations Drive Dangerous Blood Clotting Disorder
A new study shows that synonymous PROS1 variants once considered harmless can cause Protein S deficiency through aberrant splicing and ...
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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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