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 ...
Tag: rare disease genetics
Long-Read Sequencing Unlocks Rare Genetic Cause of Inherited Ataxia
Researchers used long-read genome sequencing and RNA analysis to diagnose a rare hereditary ataxia caused by biallelic VPS41 variants, expanding ...
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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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